Journal of the IAP Karnataka State Branch CONTENTS
Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Karnataka Paediatric Journal Vol. 25, No. 2 Quarterly ; Apr. - June 2011 Journal of the IAP Karnataka State Branch CONTENTS PAGE No. 1. Minutes of the 2nd Executive Committee meeting of IAP-KSB 2011 held on 31-07-2011 3 2. APPROACH TO MANAGEMENT OF SECONDARY HYPERTENSION IN CHILDREN Vikram Singhal, Sucheta Rao, Nutan Kamath 4 3. OLIVOPONTOCEREBELLAR ATROPHY A RARE NEUROLOGICAL DISORDER. Dr. Georgia, Dr.K.Shreedhara Avabratha, Dr.Habib Khan,Dr.B.Sanjeeva Rai, Dr.B Suresh 9 4. SMALL VESSEL VASCULITIS OF CENTRAL NERVOUS SYSTEM PRESENTING AS REFRACTORY FOCAL SEIZURES-A CASE REPORT Poppy Chadda, K Shreedhara Avabratha,Habib Khan,B.Sanjeev Rai and H B Suresh 5. RARE ASSOCIATION 0F POLANDS SYNDROME WITH DEXTROCARDIA Dr. N.Rashmi; Dr. Narayanappa.D 12 15 6. A RARE BLISTERING DISEASE IN A NEWBORN 17 James Daniel S, K Shreedhara Avabratha, Elizabeth Varkey Cherian, B Sanjeev Rai, Ramesh Bhat 7. STEVENS-JOHNSON SYNDROMEA CASE REPORT Dr. R.K. Jagadish Kumar, Dr. H.C. Krishna Kumar, Dr. Pawan Kumar, Dr. V.G. Manjunath, Dr. S. Mamatha 8. CASE REPORT - BIOTINIDASE DEFICIENCY IN INFANCY Dr.Rajashekar Murthy G.V , Dr Sanjay K.S. , Dr.Bharath Kumar Reddy K.R. 9. CASE REPORT: SCHIZENCEPHALY TYPE I A CAUSE FOR STROKE IN CHILDREN Dr Sanjay K.S, Dr Rajashekar Murthy G, Dr Bharath Kumar Reddy K.R 20 24 26 10. NEONATAL POLYCYTHEMIA A HOSPITAL BASED STUDY Dr.Narayanappa.D, Dr.N.Rashmi, Dr.Mohan B.K 28 11. CONGENITAL EMPHYSEMA: A CASE REPORT Roopa.Mangshetty. Sharangouda Patil. Shrikanth.S.W. Hosgouda K 12. HYPOTHYROIDISM & NEPHROTIC SYNDROME A CAUSE OR EFFECT ? Nithya T, B Sanjeev Rai, Habib Ullah Khan, Aby Dany Varghese 13. COMMON PITFALLS IN DIAGNOSING RENAL PROBLEMS IN CHILDREN - Dr Arpana Iyengar 14. EVALUATION OF A CHILD WITH POLYURIA - Dr. Nagamani Agarwal 15. APPROACH TO ANTENATALLY DETECTED HYDRONEPHROSIS - Dr. R. Premalatha 34 EDITORIAL BOARD EDITOR : DR. B. SANJEEV RAI MEMBERS : DR. HABEEB KHAN DR. RAMANATH MAHALE DR. SUBRAMANYA NK EDITORIAL OFFICE Medicare Centre Karangalpady, Mangalore - 575 003 Ph : (0824) 2238399 (O), Fax : (0824) 2430361 E-mail : [email protected] Mob. : 94481-33494 DR. PUSHPA KINI DR. SANTHOSH SOANS 1 DR. SUDARSHAN S DR.KARUNAKAR BP 36 38 40 42 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 INDIAN ACADEMY OF PEDIATRICS Karnataka State Branch Society Reg No: EKM – S460-2006-2007 OFFICE BEARERS FOR THE YEAR 2011 President Dr. R.T. Patil Secretary Dr. Ashok V. Badakali Treasurer Dr. P. Subba Rao President Elect Dr.Suresh Babu Bagalkot Mob: 9845365795 Bagalkot Mob: 9880227403 Magalore Mob: 9845872653 Davangere Mob: 9844096775 Historian Joint Secretary Editor K.P.J. Dr. Santosh Soans Dr. Pavan Hegde Dr. B. Sanjeev Rai. Mangalore. Mob: 9343565558 Mangalore. Mob: 9845088116 Mangalore. Mob :9448133494 Executive Board Members Bagalkot : Dr. R. N. Vanaki Bangaluru : Dr. Basavaraj G. V. Belgaum : Dr. Shailesh Patil Bellary : Dr. Kailash Soni Bidar : Dr. Somashekhar Bhalke Bijapur : Dr. M. M. Patil Chikkamangalur : Dr. Sundaresh Chitradurga : Dr. Natraj Dakshina Kannada : Dr. Prasad Naik Davanagere : Dr. Naveen Nadig Dharwad : Dr. Sudhindra Gadag : Dr. Vijay Neelgund Hassan : Dr. Dinesh Kodagu : Dr. Krishnanand Haveri : Dr. Rajkumar Marol Kolar : Dr. J. Krishnappa Kollegal : Dr. Sridhar M. Koppal : Dr. Anand Kumar Mandya : Dr. Narendrababu Mysore : Dr. Shrinivas Murthy Raichur : Dr. Balasubramanya Shimoga : Dr. Deepak Chirdoni Tumkur : Dr. Shivaprakash Udupi : Dr. Shrikiran Uttar Kannada : Dr. Dinesh Hegde Central Council Executive Board Members Dr. Devraj Raichur. Mob : 9449864828 Dr. Karunakar B.P. Mob : 9845263322 Dr. Dinesh S.R. Mob : 9448006166 Zonal Coordinators Bangaluru : Dr. Subramanya N. K Dharwad : Dr. Vijay Kulkarni Gulbarga : Dr. Arundathi Patil Davanagere : Dr. Deepak Chirdoni Mysore : Dr. Narayanappa Ex – Officio’s Dr. K. Doddegowda Dr. S. R. Dinesh 2 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Minutes of the 2nd Executive Committee meeting of IAP-KSB 2011 held on 31-07-2011 The second EC meeting of IAP-KSB was held in Hotel Atriya, Bangaluru on 31th July 2011 during the 29th Annual CME programme of Lakeside Education Trust. Around 36 members were present. The President Dr. R. T. Patil chaired the meeting and Dr. Ashok Badakali took the charge of the proceeding of the meeting. Dr. R.T. Patil welcomed the office beares of IAP-KSB. Dr. Ashok Badakali read the minutes of the last EC meeting held on 13.03.2011 at Mangalore. Dr. T.U. Sukumaran National President of IAP was also present during the meeting and seeked the members to conduct more academic activities and register under family benefit scheme. Dr. (Smt) Mahantishetty N.S. state co-ordinator for NRP programme briefed and requested zonal co-ordinator, district co-ordinator and trainer of trainers (TOTs) to conduct the Basic Neonatal Resuscitation Provider course in each districts as to fulfill the IAP presidents action plan for the year 2011. Dr. Ashok Badakali read out various sub committees. Dr. Gyanmurty and Dr. Basavaraj expressed tenure of sub committees should be five years however all members expressed tenure should be decided at next G.B. meeting. Dr. Deepak C.E. converner of IAP-Directory discussed how to make IAP-KSB directory and financial assistance to IAP-KSB directory. Organizing Secretary Dr. Ramesh Pol informed all the members that state conference will be held in Bagalkot on 14th to 16th October 2011. He gave list of topics and the faculties, which was approved by the members. Dr. Subramanya and Dr. Shrinath Mugali (Election Commissioner of IAP) expressed that according to election code of conduct the person who is contesting for election are not supposed become a faculty for IAP Conferences and other scientific activities. Dr. Subbra Rao gave the quarterly account of IAP-KSB and showed positive balance of Rs. 29, 13,438/ -Dr. Sanjeev Rai told about the new design of KPJ and all the members were happy about new design, he also suggested including sub-specialty series in KPJ and announced that KPJ is now indexed journal but not indexed with pubmed and sought more articles from medical colleges, practitioners and sub specialty chapters. Dr. Subramanya has been nominated by central IAP as in charge for designing new teaching slides for under graduates and post graduates. Dr. Karunakar B.P. briefed on the minutes of EB meeting of central IAP held in June at Cochin. Dr. Ashok Badakali secretary IAP-KSB proposed the vote of Thanks. Dr. R.T. Patil President IAP KSB - 2011 Dr. Ashok Badakali Secretary IAP KSB 2011 3 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 APPROACH TO MANAGEMENT OF SECONDARY HYPERTENSION IN CHILDREN *Vikram Singhal, Sucheta Rao, Nutan Kamath Hypertension is defined as averagesystolic and/or diastolic pressure >95th percentile for gender, age and height on >3occasions.In developed countries, the estimated prevalence in children is 1%2%.Surveys suggest a prevalence of 2%-5% in Indian school children. Hypertension in children can be essential (primary) or secondary (identifiable underlying cause). A secondary etiology may be suggested by symptoms,examination findings or laboratory abnormalities. Up to 85 percent of children with hypertension have an identifiable cause, most often renal parenchymal disease. Anage-based approach to the differential diagnosis is recommended. The ABCDE mnemonic can be used to help determine a secondary cause of hypertension TABLE I Causes of Secondary Hypertension in Different Age Groups Age Causes# Newborns Renal artery thrombosis, renal artery stenosis, Congenital malformation, coarctation of aorta, Bronchopulmonary dysplasia Infancy-6 yr Renal parenchymal disease(Chronic glomerulonephritis, reflux nephropathy, obstructive uropathy, polycystic kidney disease), renal artery stenosis , Coarctation of aorta 6-10 yr Renal artery stenosis, Renal parenchymal disease. Adolescence #__Others causes Renal parenchymal disease Endocrine: Pheochromocytoma, cushing syndrome, congenital adrenal hyperplasia, primary hyperaldosteronism, Liddles syndrome, neuroblastoma Renal tumors: Wilms tumor, nephroblastoma Drugs: ibuprofen, naprosyn, peudoephedrine, carbamazepine, cyclosporine, tacrolimus, methyl prednisolone, prednisolone, fludrocortisone, erythropoietin A: ACCURACY, ALDOSTERONISM encircle at least 80-100% of the armand the bladder length should be >40% ofthe arm circumference. Measurements should betaken after 3 to 5 minutes of resting.White-coat hypertension (blood pressure that is elevated in the physicians office but normal at other times) accounts for about 20 percent of patients with elevated readings. Accuracy The first step in diagnosing an elevated blood pressure reading is to investigate its accuracy. An inappropriate blood pressure cuff for age or tight-fitting sleeves that are not removed can give falsely wrong readings. The cuffshould * Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University. 4 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Appropriate charts with blood pressure ranges based on gender, age, and height percentilesfor children should be used. Cushings Syndrome Cushings syndrome can cause hypertension via the mineralocorticoid effects of excess glucocorticoids. Aldosteronism Primary hyperaldosteronism is defined as overproduction of aldosterone independent of its usual regulator the reninangiotensin system. D: DRUGS, DIET Drugs Many prescription and nonprescription drugs can cause or exacerbate hypertension Eg. ibuprofen, naprosyn, peudoephedrine, carbamazepine, cyclosporine, tacrolimus, methyl prednisolone, prednisolone, fludrocortisone, erythropoietin B: BAD KIDNEYS, BRUITS Bad Kidneys Renal parenchymal disease can be a cause or consequence of hypertension. The renal damage decreases the kidneys ability to excrete salt and excess fluid (resulting in a low renin state, as opposed to the high renin state found in renovascular hypertension). Diet Excess consumption of dietary sodium is linked to chronic hypertension.Obesity also can cause hypertension. Bruits E: ENDOCRINE DISORDERS Renovascular hypertension results from compromised arterial supply to the kidneys and about 50% of patients have an abdominal bruit identifiable on examination. Endocrine Disorders Hypothyroidism induces decreased cardiac output with a compensatory increase in vascular tone, resulting in rise in diastolic blood pressure whereas hyperthyroidism induces increased cardiac output and compensatory decreased vascular tone, causing a greater increase in systolic blood pressure. C: COARCTATION, CATECHOLAMINES, CUSHINGS SYNDROME Coarctation of the Aorta Coarctation of the aorta the second most common cause of hypertension in children, is more common in boys. In neonates coarctation may present acutely as congestive heart failure, but it is usually diagnosed in children with the onset of hypertension, difference between upper limb and lower limb pulses or a cardiac murmur. Hyperparathyroidism (primary or secondary to chronic renal insufficiency) is a potentially reversible cause of hypertension. However, only 30 to 40 percent of patients with hyperparathyroidism have hypertension, and parathyroidectomy does not reliably resolve hypertension in patients with this disorder. Catecholamines In pheochromocytoma,the symptoms can vary depending on the types of catecholamines being produced, the amount and frequency of their release into the circulation. Excess catecholamine levels play a role in white-coat hypertension and pheochromocytoma. Acute stress induces catecholamine release and often contributes to hypertension. 5 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Figure 1: Algorithmic approach to evaluation of child with hypertension Suspected Hypertension Check for • Proper cuff size • White Coat Hypertension Confirm Hypertension Detailed History Clinical Examination Full blood count ,Serum electrolytes, uric acid, renal function tests,Fasting lipid profile,Urinalysis,Renal ultrasound Abnormal urinalysis Gradient between Upper and Lower limb Coarctation of Aorta- MRI Transthoracic Echocardiography Predominant RBC Predominant WBC Reflux Nephritis Urinary Tract Infection- Dimercaptosuccinic acid, DiethylenetriaminePentaacetic Acid, Micturatingcystourethrogram, Renal anomaly Endocrine Acute Glomerulonephritis Lupus nephritis Henoch Schonlein Purpura Renal Vein Thrombosis Calculi,Infections Renovascular lesion Thyroid- Thyroid stimulating hormone Computed tomography angiography Aldosteronism-Renin angiotensin activity Doppler ultrasonography of renalPheochromocytoma24-hour urinary arteries fractionated MRI with gadolinium contrast media metanephrines Plasma free metanephrines Cushing syndrome- 24-hour urinary cortisol Low-dose dexamethasone Suppression Congenital adrenal- 17-OH Progesterone Essential hypertension hyperplasia 6 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Treatment • It is imperative to differentiate primary from secondary hypertension as treatment of the underlying cause of secondary hypertension canoften normalize the blood pressure. The choice antihypertensive drugs depend on the underlying cause. Initial treatment with Calcium channel blockers (CCB) or beta adrenergic blockers (BB) or Angiotensin converting enzyme inhibitor(ACEi) Principles of treatment • • • • Weight loss- Reduction of BMI by 10% is reported to lead to 8-12 mm Hg fall in blood pressure. The goal for treatment is reduction of blood pressure to levels <95th percentile, unless comorbid conditions or target-organ damage is present, when it should be lowered to <90thpercentile of expected age, sex and height of the child If BP continues to be >95th centile: Usecombination therapy - ACEi + CCB or ACEi +Thiazides or CCB + BB. (Watch for bradycardiawhen combining BB and CCB) Therapy is initiated with one agent, at an appropriate dose and the dose is increased until the desired blood pressure is achieved. If the highest dose is not effective or if there are side effects, a drug from a different class is added or substituted If BP continues to be >95th centile: Add thirdagent - ACEi + CCB + Diuretic/ BB. Otheragents: prazosin, clonidine, hydralazine. Choice of drugs according to the cause ofhypertension Medications with a longer duration of action (once, twice daily dosing) are preferred forbetter compliance and reduced side effects Dose adjustment of antihypertensive medications can be made every 2-3 days. • Acute glomerulonephritis :Loop diuretic + CCB or ACEi • Renovascular hypertension: CCB+ diuretic Lifestyle modifications A BB instead of a CCB if ventricular function is normal ormildly deranged • Dietary changes- Recommendations for daily sodium intake range between 11.5 g. • • Physical exercise- 30-60 minutes or more of physical activity every day that is developmentally appropriate, enjoyable and involving a variety of activities Chronic kidney disease:CCB, ACEi or BB If two drugs are required, the ACEi (or BB) should be combined with a CCB. Drug step-down:It might be possible in overweight children who have lost sufficient weight and also in patients in whom aspecific intervention has treated the underlyingcause for hypertension. 7 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 TABLE II Choice of Antihypertensive Drugs Drug Dose initial Maximum Nifedipine 0.25 mg/kg 0.5 mg/kg Sodium nitroprusside 0.5 µg/kg/min IV Labetalol 1 mg/kg/hr IV, can be given 3 mg/kg/hr IV Hypertensive emergencies 8 µg/kg/min IV as bolus or steady infusion Long-term therapy Captopril Neonates 0.03 mg/kg/d 2 mg/kg/d children 1.5 mg/kg/d 6 mg/kg/d Enalapril 0.15 mg/kg/d 0.6 mg/kg/d Losartan 0.7 mg/kg/d 1.4 mg/kg/d Extended-release nifedipine 0.25 mg/kg/d 3 mg/kg/d Amlodipine 0.1 mg/kg/dose 0.6 mg/kg/d Propranolol 1 mg/kg/d 8 mg/kg/d Atenolol 1 mg/kg/d 8 mg/kg/d Prazosin 0.05-0.1 mg/kg/d 0.5 mg/kg/d Minoxidil 0.1-0.2 mg/kg/d 1 mg/kg/d Hydrochlorothiazide 1 mg/kg/d 2-3 mg/kg/d Furosemide 1 mg/kg/d 12 mg/kg/d (maximum 20 mg/d) Further Reading: 1. Children. Indian Pediatr 2009; 46: 310338. Bagga A, Jain R, Vijayakumar M, Kanitkar M, Ali U. Evaluation and management of hypertension. Indian Pediatr 2007; 44: 103-121. 2. Gulati S. Childhood Hypertension. Indian Pediatr 2006; 43: 326-333. 3. Working Group on Management of Congenital Heart Diseases in India. Drug Therapy of Cardiac Diseases in 8 4. Anthony J. V. , Dana M. N. Diagnosis of Secondary Hypertension: An AgeBased Approach. Am Fam Physician.2010;82(12):1471-1478. 5. Edward O.Diagnosing Secondary Hypertension.Am Fam Physician.2003;67(1): 67-74. Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 OLIVOPONTOCEREBELLAR ATROPHY A RARE NEUROLOGICAL DISORDER. *Dr. Georgia, Dr.K.Shreedhara Avabratha, Dr.Habib Khan,Dr.B.Sanjeeva Rai, Dr.B Suresh Abstract Case An 8 month old infant was brought with history of developmental delay and not fixing or following objects. Infant had microcephaly and generalized hypotonia. Remaining general physical examination and systemic examination was unremarkable. Developmental assessment showed global developmental delay with developmental age corresponding to less than 2 months. Oto-acoustic emissions showed bilateral hearing loss. Ophthalmology evaluation to rule out neurometabolic disorders revealed normal pupils, cornea and fundus. MRI scan features were suggestive of olivopontocerebellar atrophy (OPCA). An 8 month old male baby presented with history of developmental delay and not fixing or following objects. Baby was born to nonconsanguineous parents as fullterm vacuum delivery. There was no history of birth asphyxia. Developmental history revealed global developmental delay with developmental age corresponding to less than 2months. On examination baby weighed 5.75kg, Length-61cm, and Head circumference-42cm (microcephaly). Baby was afebrile with normal heart rate and respiratory rate. Anterior fontanelle was open (3x2 cm) and convergent squint was present. Facies was normal. Head lag was present and hypotonia was noticed in all four limbs. Deep tendon reflexes were brisk. Cardiovascular, respiratory and abdominal examinations were normal. Key words Hypotonia, Hearing loss, Olivopontocerebellar atrophy. Introduction Blood counts, liver function tests and renal function test were within normal limits. ABG analysis, urine metabolic screening, and ophthalmology evaluation were done to rule out neurometabolic disorders. ABG analysis was normal. Urine for metabolic screening was negative. Ophthalmology assessment revealed normal pupils, cornea and fundus. Otoacoustic emissions showed bilateral hearing loss. MRI scan of brain showed prominence of the cerebellar folia, fourth ventricle and cerebellopontine angle cisterns suggestive of cerebellar atrophy. The prepontine and perimedullary cisternal spaces were prominent with reduction in the size of the pons. Features were suggestive of olivopontocerebellar atrophy. Olivopontocerebellar atrophy (OPCA) is a term coined by Dejerine and Thomas which comprises a series of heterogenous diseases whose only common factor is the loss of neurons in the ventral portion of the pons, inferior olives and cerebellar cortex1. There may be neuronal loss to a variable degree in the spinal cord, cerebral cortex and basal ganglia. Clinically they manifest as progressive cerebellar ataxia, tremor, speech impairment, and in some instances, marked extrapyramidal signs, cranial nerve palsies, and peripheral neuropathy2. It is rare in childhood and very few present in the first year of life3. We report an 8 month old baby with OPCA presenting with global developmental delay for its rarity. * Dept of Pediatrics and Radiology*, Fr.Muller Medical College Mangalore-575002. 9 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Discussion well described in adults and to a lesser extent in older children. Notable features in sporadic and the familial forms of OPCA are the extensive degeneration of the middle cerebral peduncles, the cerebellar white matter, and the pontine, olivary, and arcuate nuclei. Loss of purkinje cells has been variable. Most likely this degeneration represents a terminal dying back of axons of the pontine and olivary nuclei with secondary myelin degeneration. The extreme atrophy of the medullary olivary nuclei virtually identifies the process and is evident on MRIs5. Though we couldnt do all the biochemical investigations in our case, MRI features were suggestive of OPCA. In 1970, Konigsmarkand Weiner 4 classified OPCA into five types, type II being of recessive or sporadic inheritance, the other types being autosomal dominant. It is now generally accepted that it is not a single disease, but is the result of a number of clinically and genetically separate conditions. The first report of neonatal onset of olivopontocerebellar atrophy with systemic features was by Agamanolis et al4 in 1986. They described a brother and sister with the condition and suggested that it may have been caused by a primary lipoprotein disorder. Harding et al 4, two years later, noticed low serum concentrations of thyroid binding globulin and ceruloplasmin in the two cases that they reported, thus raising the possibility of an abnormality of glycoproteins. A less severe disorder has been described in recent years with many features in common with olivopontocerebellar atrophy of neonatal onset including failure to thrive, developmental delay, hypotonia, retinal abnormalities, liver disease, joint restrictions, pericardial effusions, and cerebellar hypoplasia or atrophy. This has been named disialotransferrin developmental deficiency (DDD) syndrome or carbohydrate deficient glycoprotein syndrome4. Fig. A Recently, a putative biochemical defect has been identified in some patients with recessive or sporadic OPCA, which is the deficiency of the enzyme glutamate dehydrogenase which is involved in the metabolism of the excitatory neurotransmitter glutamate 4 . Other neurotransmitter abnormalities have been described in dominant OPCA3. The diagnosis of olivopontocerebellar atrophy rests primarily on morphological evidence of degeneration of the cerebellar cortex and its afferent pathways; it has been Fig. B 10 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Fig.A.MRI-Axial T2 weighted imaging shows cerebellar and medullary atrophy with prominent CSF spaces. Fig.B.MRISagital T1 weighted imaging shows atrophy of pons,medulla and cerebellum and prominent CSF spaces. There is no specific treatment or cure for this disease. Therapy is aimed at treating symptoms and preventing complications. This may include speech and physical therapy, techniques to prevent choking, walking aids to help with balance and prevent falls. In conclusion OPCA is a rare CNS disorder with varied clinical manifestations and characteristic MRI findings. This entity should be considered whenever such features are encountered. REFERENCES 1. 2. Menkes J H, Heredodegenerative diseases, Child Neurology, 7th edition, Lippincot Williams and Wilkins, Philadelphia, 2006:182-184 3. B N Harding, D B Dunger, D B Grant, Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities, Journal of Neurology, Neurosurgery and Psychiatry 1988;51:385-390 4. S P Horslen, P T Clayton, B N Harding et al, Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome, Archives of Disease in Childhood 1991;66:10271032 Allan H.Ropper, Degenerative Diseases Of The Newborn, Adams and Victors Principles Of Neurology, Principles of Neurology, Eighth edition, McGraw-Hill, New York 2005:935-936 S Choi, M S Lee, W T Kim et al, Olivopontocerebellar atrophy. Yonsei Medical Journal 1988;29:233-237 11 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 SMALL VESSEL VASCULITIS OF CENTRAL NERVOUS SYSTEM PRESENTING AS REFRACTORY FOCAL SEIZURES-A CASE REPORT *Poppy Chadda, K Shreedhara Avabratha,Habib Khan,B.Sanjeev Rai and H B Suresh Abstract: Eight year old boy presented with refractory focal seizures. Seizures persisted in spite of second line anticonvulsant drugs.MRI revealed bilateral cerebral hemispheric multifocal non enhancing hyperintense lesions involving the gray matter and sub cortical white matter. A diagnosis of small vessel vasculitis of the central nervous system was made. Child responded to intravenous methyl prednisolone followed by oral steroids. suggesting that the neurological deficits caused by brain inflammation are reversible.We report one case who presented with refractory seizures and diagnosed to have CNS small vessel vasculitis. Case : Eight year old boy presented with history of six episodes of focal seizures with secondary generalisation and post ictal drowsiness in the previous three days.Except for headache there was no history of fever,vomiting or trauma.There is no family history of epilepsy. On examination, he was afebrile, GCS was 15/15, HR-100/min,BP100/60 mm of Hg,RR-26/min. Systemic examination was normal and there was no neurological deficits. Initial blood counts, blood sugar and serum electrolytes were within normal limits.CSF analysis was also normal (CSF glucose-79, protein-16,cells -2 lymphocytes)EEG showed left centrotemporal epileptiform discharges. CT and MRI of brain showed features of post ictal oedema. Child was treated with loading dose of phenytoin followed by maintainence dose. Seizures subsided for 2 days. Key words: Central nervous system, Refractory seizures, Vasculitis. Introduction: Childhood primary angiitis of the central nervous system is a recently recognised rare inflammatory disease that causes severe neurological deficits and unexplained neurological symptoms including intractable seizures, hemiparesis, cranial nerve deficits,severe cognitive deficits and decreased consciousness. There are two types of childhood primary angiitis of the CNS: medium-large vessel and small vessel vasculitis.MRI is a sensitive but not specific detector of vascular disease but is certainly valuable in excluding other conditions. In patients with small vessel childhood primary angiitis of the CNS, angiography findings are typically negative and thus diagnosis must be confirmed by brain biopsy. Neurological outcome in patients with small vessel childhood primary angiitis of the CNS can be devastating and can result in death. However, some children with small vessel disease have shown neurological recovery after immunosuppressive treatment, Two days after admission child developed recurrent focal seizures involving the left lower limb lasting for 1-2 minutes every 30-60 minutes, which later became persistent. Child was put on valproate, leviteracetam and lamotrigine. Phenytoin was tapered and stopped. But seizure activity continued. Carbamazepine and phenobarbitone was also tried. Midazolam infusion was also given. However seizure activity did not subside. A course of acyclovir was also administered. * Department of Paediatrics and *Radiology,Father Muller Medical College, Mangalore, Karnataka,India. 12 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 intravenous methyl prednisolone pulse therapy for 5 days. By the 5th day seizure activity reduced in intensity and frequency and child was able to walk. Child was put on oral steroids and discharged. Seizures completely subsided within the next one week. A repeat MRI done after two weeks showed bilateral cerebral hemispheric multifocal non enhancing hyperintense lesions involving the gray matter and subcortical white matter (Fig 1 &2).Possibility of small vessel vasculitis was made. ANA profile was negative. In view of vasculitis the child was started on Fig 1 Fig 2 Fig 2 MRI showing focal areas of hyperintensity involving grey matter and subcortical white matter which show no post contrast enhancement Fig 1 MRI showing bilateral cerebral hemispheric multifocal non enhancing hyperintense lesions involving grey matter and subcortical white matter. large vessel disease affects arteries that are large enough to be differentiated by conventional angiography. In patients with small vessel childhood primary angiitis of the CNS, angiography findings are typically negative and thus diagnosis must be confirmed by brain biopsy. In our case non response to anticonvulsants and abnormal EEG prompted us to repeat a MRI. Repeat MRI at 6 weeks showed improvement. Steroids were continued for 3 months and then tapered and stopped.MRI done after 12 weeks showed complete resolution. Child is being regularly followed up and anti epileptic drugs are gradually withdrawn and currently he is on one antiepileptic drug. Discussion: Small vessel childhood primary angitis of the CNS has been described in a small number of case reports and case series, with little information known about its incidence and age distribution. Neurological outcome in patients with small vessel childhood primary angiitis of the CNS can be devastating and can result in death. However, some children with small Primary angiitis of CNS is a curious and uncommon vasculitis and was first recorded amongst unknown form of arteritis by Harbitz in 1922. It is almost exclusively confined to the brain and less commonly the spinal cord. There are two types of childhood primary angiitis of the CNS: medium-large vessel and small vessel vasculitis. Medium 13 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 vessel disease have shown neurological recovery after immunosuppressive treatment, suggesting that the neurological deficits caused by brain inflammation are reversible. This recovery contrasts with the irreversible damage caused by acute ischaemia in paediatric patients with medium-large vessel disease. the problems in recognition and diagnosis, cerebral vasculitis is a highly treatable condition for which prompt management can radically improve the outcome, hence every attempt should be made to diagnose the same. References A myriad of neurological symptoms, signs or syndromes can occur in CNS vasculitis, reflecting the potential for infarction and ischaemia which may be micro- or macroscopic, focal, multifocal or diffuse and affect any part of the brain. Most accounts of the disorder describe headaches, focal or generalized seizures, stroke-like episodes with hemispheric or brainstem deficits, acute or subacute encephalopathies, progressive cognitive changes, chorea, myoclonus and other movement disorders, and optic and other cranial neuropathies. In short, there are few neurological syndromes that are not consistent with a vasculitic aetiology. Systemic features such as fever, night sweats, livedo reticularis, or oligoarthropathy may also be present but often are only revealed by direct questioning of the patient. Our patient presented with only seizures. The course is commonly acute or subacute, but chronic progressive presentations are also well described, as are spontaneous relapses and remission. Prospective randomised controlled trials are understandably difficult because of the rarity of the condition and the lack of unifying diagnostic criteria. Retrospective analyses done in various studies have emerged significant support for the use of steroids with or without cyclophosphamide in confirmed cases.Our child responded well to intravenous methyl prednisolone, followed by oral prednisolone. Notwithstanding 14 1) Hutchinson C, Elbers J,Halliday W etal. Treatment of small vessel primary CNS vasculitis in children-an open label cohort study . Lancet neurology 2010; 9: 107884. 2) Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG. Childhood primary angiitis of the central nervous system: two biopsyproven cases. J Pediatr 2004; 145: 693 97. 3) Benseler SM, deVeber G, Hawkins C, et al. Angiography-negative primary central nervous system vasculitis in children: a newly recognised inflammatory central nervous system disease. Arthritis Rheum 2005; 52: 215967. 4) Benseler SM, Silverman E, Aviv RI et al. Primary central nervous system vasculitis in children. Arthritis Rheum 2006; 54: 129197. 5) Lanthier S, Lortie A, Michaud J, Laxer R, Jay V, deVeber G. Isolated angiitis of the CNS in children. Neurology 2001; 56: 83742. 6) Matsell DG, Keene DL, Jimenez C, Humphreys P. Isolated angiitis of the central nervous system in childhood. Can J Neurol Sci 1990;17: 15154. 7) F G. Joseph and N J. Scolding. Cerebral vasculitis-a practical approach.Practical Neurology 2002; 2, 8093. Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 RARE ASSOCIATION 0F POLANDS SYNDROME WITH DEXTROCARDIA * Dr. N.Rashmi; Dr. Narayanappa.D A 7 year old boy presented to the OPD with history of chest deformity noticed since birth. There was no history of recurrent chest infections, cyanosis or breathing difficulty. He was born to nonconsanguinously married normal parents. He was not investigated for the above complaint anytime earlier. His general physical examination revealed left sided depressed hemithorax, with absent areola and an inverted left nipple (fig 1). positions of all the organs, which ruled out situs inversus. Discussion: Poland syndrome is a rare congenital anomaly that was first described by Alfred Poland in 1841. The incidence ranges from 1:10000 to 1:100000 as reported by different authors. The right side of the body is affected three times more frequently than the left and it is more common in boys than in girls. It comprises of different anomalies principally at musculo-skeletal system, lungs, heart and kidneys. There was no associated limb defect or defective digits on the same side. No other obvious external anomaly was made out. Cardiovascular examination revealed a right sided apex located in the 4 th intercostal space, with normal heart sounds and no murmur. Respiratory system showed decreased intensity of breath sounds over the left lung fields. Per abdomen was unremarkeable. Chest X-ray (fig 2) done showed findings suggestive of dextrocardia with defective left 2nd, 3rd and 4th ribs, with normal diaphragms. Thorax deformity is the most common feature of this syndrome. It includes hypoplasia or absence of the pectoralis minor and the sternal head of pectoralis major muscles. The defect in the chest wall is variable with the absence or rudimentary development of the anterior portion of 2, 3, 4, 5th ribs and their costal cartilages. Breast together with nipple can be absent or underdeveloped. Ipsilateral hand anomalies can be seen as brachydactyly, syndactyly or ectrodactyly 2D echo confirmed dextrocardia with no structural cardiac abnormality. Ultrasound abdomen showed normal * Department of Pediatrics.JSS Medical College Hospital, JSS University, Mysore. 15 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 and are most important features of the syndrome1,2,3. Different etiologic factors of Poland syndrome are taken into account: genetic, vascular compromise during early stages of embryogenesis, but also teratogenic effects of environmental xenobiotics. features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support this hypothesis. References More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet4. Dextrocardia was reported in 5.6% of a series of 144 patients with Poland syndrome, and in 9.6% of those, the defect was left-sided2,5,7. In patients with isolated dextrocardia, the incidence of congenital heart disease has been estimated at 98%. In dextrocardia with situs inversus this rate is only 5% 6 . Congenital cardiovascular anomalies have not been reported in Poland syndrome with dextrocardia. Dextrocardia in Poland syndrome is associated with rib defects in all of cases, whereas rib defects are reported in only about 15% of patients with right-sided Poland syndrome7. Our case also supports the view that the combination of Poland sequence and dextrocardia is not coincidental and dextrocardia may be part of the Poland syndrome, especially left-sided. Probably, mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. Accordingly, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar 1. Kevin P, David CS Jr. Disorders of sternum and the thoracic wall. In : Sabiston DC, Spencer FC (Eds.). Surgery of the Chest, 6th ed. Philadelphia: WB Saunders, 1995; 507-511. 2. Fokin AA, Robicsek F. Polands syndrome revisited. Ann Thorac Surg 2002; 74: 2218- 2225. 3. Van Heest Ann E. Common orthopedic problems II, Congenital disorders of the hand and upper extremity. Pediatr Clin North Am 1996; 43: 11131133. 4. Michele Torre, Anwar Baban, Anna Buluggiu, Sara Costanzo, et al. The Journal of Thoracic and Cardiovascular Surgery - 12 November 2009 (10.1016/ j.jtcvs.2009.08.024). 5. Bavinck JNB, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel- Feil, and Mobius anomalies. Am J Med Genet. 1986; 23:903-18. 6. Chen JTT. The chest roentgenogram and cardiac fluoroscopy. In: Alexander RW, Schlant RC, Fuster V, editors: Hursts the heart. Italian International Edition. New York: McGraw-Hill; 1995. p. 387-414. 7. Fraser FC, Teebi A, Walsh S, Pinsky L. Poland sequence with dextrocardia: which comes first? Am J Med Genet. 1997; 73: 194-6. 16 16 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 A RARE BLISTERING DISEASE IN A NEWBORN * James Daniel S, K Shreedhara Avabratha, Elizabeth Varkey Cherian, B Sanjeev Rai, Ramesh Bhat Abstract that are characterized by blister formation in response to little or no apparent trauma. Hence the alternate term is mechanobullous disease. There are three major types, epidermolysis simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa which differs in clinical and histologic features, inheritance patterns and severity and prognosis1 . It usually presents either at birth or during the neonatal period. The incidence and prevalence of epidermolysis bullosa are estimated to be 19.60 per million live births and 8.22 per million population, respectively2. We report a newborn with multiple blisters A term baby presented with multiple bullae and erosions on lower limbs, back and scalp. Minimal trauma resulted in fresh lesions. There were a few oral and perioral lesions. Skin biopsy from the lesion confirmed the diagnosis of junctional epidermolysis bullosa. Epidermolysis bullosa is a rare congenital mechanobullous disease. Key words: Epidermolysis bullosa, blister, newborn INTRODUCTION Epidermolysis bullosa (EB) is a group of congenital, hereditary blistering disorder Fig A. Showing blistering in perioral regions Fig B. Showing blistering and erosion on extremities Fig C:Light microscopy(10X) of biopsy specimen showing subepidermal blistering *Department of Pediatrics and # Department of Dermatology, Father Muller Medical College, Mangalore, Karnataka, India 17 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 type of EB. The junctional EB is more severe and is characterized by enamel hypoplasia with moderate to severe intraoral blistering and skin lesions where as the dystrophic EB is the most severe form of disease characterized by milia, atrophy and nail dystrophy3. and erosions whose skin biopsy confirmed the diagnosis junctional EB. CASE A term female baby born to gravida 3 mother, with a good apgar score was referred on day1 with history of blistering and erosion of skin since birth. There was consanguinity( 2 o relation) between the parents, however there was no family history of similar complaints. The birth weight of the baby was 2200 grams. On examination baby had erosion on the lower limbs and bullae over the back and scalp (Fig A). Minimal trauma resulted in fresh lesions. There were few oral and perioral lesions (Fig B). Systemic examination was normal. A diagnosis of epidermolysis bullosa was considered, with congenital syphilis as a differential diagnosis. Mother was tested negative for VDRL. Skin biopsy confirmed the diagnosis of junctional epidermolysis bullosa (Fig C). The baby was treated with antibiotics local and systemic, and paraffin guaze dressing. Inspite of the treatment the baby succumb to illness. Junctional epidermolysis bullosa(JEB) is the rare form of epidermolysis bullosa and has an incidence of 2.04 per million live births and 0.44 per million population, respectively 2 which is characterized by presence of enamel hypoplasia, manifested as localized or more extensive thimble-like pitting of some or all of the tooth surfaces. It is therefore an extremely useful clinical finding, although it cannot be used as a diagnostic tool until after the primary teeth have erupted3. There are two major JEB subtypes JEB- Herlitz and JEB Non Herlitz. The more severe one, JEB-Herlitz (JEBH), presents at birth and involves all skin surfaces which is inherited as autosomal recessive inheritance and is life threatening. An affected usually presents with blisters at birth or during early neonatal period with blisters particularly in perioral area, scalp, legs, diaper area and thorax with relative sparing of feets and legs. Mucous membrane involvement may be severe and presents as ulcerations in respiratory, gastrointestinal and genitourinary system. DISCUSSION Epidermolysis bullosa(EB) is a rare group of inherited disorders that manifests as blistering or erosion of the skin and in some cases, the epithelial lining of other organs, in response to little or no apparent trauma. The following major types of epidermolysis bullosa have been identified Epidermolytic - Epidermolysis bullosa simplex (EBS), Lucidolytic - Junctional epidermolysis bullosa (JEB), Dermolytic Dystrophic epidermolysis bullosa (DEB)3. An essentially pathognomonic finding is exuberant granulation tissue which usually arises within the first several months to one to two years of life3. This may involve not only the skin but also the upper airway. Moderate to severe intraoral blistering is invariably present, with some eventual narrowing of the opening of the mouth (microstomia) and reduced extension of the tongue (ankyloglossia). Epidermolysis bullosa simplex is the most common type characterized by blisters in the palms and soles, while milia scarring and nail dystrophy is uncommon in this 18 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Most patients die within first three of year as large moist erosive plaques may provide a portal of entry for bacteria causing septicemia which is the most frequent cause of death1. calories, supplementation of iron and prompt treatment of infections with appropriate antibiotics. Transfusion of packed cells may be required in patient not responding to iron and erythropoietin. Tissue engineered skin grafts may be beneficiale. The second type is a less severe form, JEB-non Herlitz which is a heterogenous group which presents as severe blistering in neonatal period which is difficult to differentiate from Herlitz type as conditions associated with it is seen although in milder form. Generalized atrophic benign epidermolysis bullosa and JEB associated with pyloric stenosis are variants of non-Herlitz JEB. In summary any baby presenting with bullous skin lesions, EB should be considered and every effort should be made to confirm the diagnosis. REFERENCES In all types of JEB, light microscopy shows subepidermal blister and electron microscopy shows cleavage plane in the lamina lucida. Differentiation of the two types of epidermolysis bullosa is also dependent on electron microscopy findings and antigenic staining 4 ,5 . In our case, lesions presented since birth and light microscopy was suggestive of JEB, this fits into JEB-H. Differentiating EB from non-EB, or one form of EB from another, can be very difficult, especially in the neonatal period. The following condition can be considered in the differential diagnosis of EB: bullous congenital ichthyosiform erythroderma; staphylococcal scalded skin syndrome; bullous impetigo; incontinentia pigmenti; neonatal herpes simplex; autoimmune bullous disease pemphigus or herpes gestationis; aplasia cutis; focal dermal hypoplasia; congenital syphilis and Gunthers disease2. The treatment of JEB is mainly supportive with diet which gives adequate 19 1. Morelli JG. Vesicobullous disorders. In Nelson Text book of Pediatrics. Kleigman RM, Jenson HB, Behrman RE and Stanton BF ed. Philadelphia, Pennsylvania, Saunders 2007; 26852693. 2. Fine JD and Burge SM. Genetic Blistering Diseases. In Rooks Text book of Dermatology. Burns T, Breathnach S, Cox N and Griffiths C ed. Singapore, Wiley Blacwel 2010; 39.1-39.32. 3. Fine JD. Epidermolysis Bullosa. In Dermatology. Bolagnia JL, Jorizzo JL and Rapini RP ed. Spain, Elsevier 2008; 457-466. 4. Fine JD. Inherited epidermolysis bullosa. Orphanet Journal of Rare Diseases 2010, 5:12. 5. Fine JD, Eady RAJ, Bauer JA, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008, 58:931-950. Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 STEVENS-JOHNSON SYNDROMEA CASE REPORT *DR.K JAGADISH KUMAR, DR.H.C.KRISHNA KUMAR, DR.PAWAN KUMAR, DR.V.G.MANJUNATH, DR.S.MAMATHA ABSTRACT and includes close monitoring of fluid and electrolyte status, nutritional support, meticulous wound care, and control of pain and infection. We report 11 year old boy with SJS caused by amoxicillin treated with betamethasone who recovered completely without any sequele. Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are potentially fatal disorders, characterized by high fever, wide-spread blistering exanthema of macules, accompanied by mucosal and oral involvement. The major causative drugs were antibiotics, anticonvulsants, and NSAIDs. The use of corticosteroids is based on the idea that corticosteroids can effectively suppress an excessive immune response. We report 11 year old boy with SJS caused by amoxicillin treated with betamethasone, who recovered completely without any sequele. CASE REPORT A 11 year old boy presented with fever since 5 days and skin lesions since 2 days. After 3 days of onset of fever he developed red rashes over the trunk,which gradually progressed to involve the whole body over next three days.Later the rashes became dark with blister formation .He stopped taking orally also and mother noticed red lips with oral ulcers.There was no history of cough, difficuty in breathing and pruritis.His urine out put was normal and there was no history of dark coloured urine and stools.He was treated with amoxicillin and paracetamol for 2 days before the onset of rashes. KEY WORDS: amoxicillin, SJS, betamethasone INTRODUCTION Stevens-Johnson syndrome is an immune-complexmediated hypersensitivity disorder that may be caused by many drugs, viral infections, and malignancies. Most patients are in the second to fourth decade of life; however, cases have been reported in children as young as 3 months (1). SJS and TEN are severe cutaneous reactions that carry significant morbidity and mortality risks for children who are affected (2). They represent severity varients of the same process with respect to mechanisms, clinically, etiologically and histopathologically. The incidence is 1 to 6 cases per million person per years(3).Even though the exact pathophysiology is unclear,drugs are the important etiological factor. Supportive therapy is the standard of care for SJS/TEN On examination he was febrile, PR of 106/minute, BP of 90/60 mm of Hg, Respiratory rate of 24/min oxygen saturation was 98% in room air.Skin examination revealed generalised red maculopapular lesions all over the body more on the face with few crusted lesions exposing the red raw surface.There were vesicles surrounded by erythematous base.Nikolskys sign was absent.Oral cavity appeared red,crusted with erosions over lips ,buccal mucosa,and genitalia.Detailed *Dept OF PEDIATRICS, JSS MEDICAL COLLEGE,JSS UNIVERSITY, MYSORE, KARNATAKA, INDIA. 20 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 ophthalmic examination revealed photophobia, congested with white discharge bilaterally. Other systemic examination was unremarkable. Investigations revealed Hb 13gm/dl,TC 5,800cells/cu mm ,Differential count of 80% Neutrophils,20% lymphocytes, platelet count2.36 lakhs/cumm, normal normocytic peripheral blood picture,CRP positive,widal and peripheral smear for malarial parasite were negative.Blood urea 22mg/dL,creatinine 0.6mg/dL,Blood sugar 136 mg/dL, ,Sodium 128mmol/l, potassium 4.2 m mol/L,chloride 100 mmol/l,chest Xray normal, blood culture was sterile. In view of exposure to amoxicillin with typical clinical features ,a diagnosis of SJS/TEN was made .Boy was started with i.v fluids,inj ranitidine, oral vitamin A 2 lakhs per day and i.v.cefotaxim.Saline compresses for the skin lesions,ofloxacin eye drops,saline cleansing of oral mucosa with application of glycerin with local anaesthetic gel was given .I.V.betamethasone 4 mg once a day started with monitoring of the vitals.He became afebrile by 4 days and he started taking orally by 3 days and became ambulent on the fifth day.Skin and mucosal lesions started fading by 3 days.He was completely off i.v fluids by fifth day. Betamethasone was given for 7 days. By 10 th day his skin and oral lesions healed completely and discharged. DISCUSSION SJS and TEN are acute life threatening mucocutaneous reactions characterised by extensive necrosis and detachment of epidermis.They start as erythematous macules,evolve progressively to confluent flaccid blisters with epithelial detachment. They represent severity varients of the same process with respect to mechanisms, clinically, etiologically and histopathologically. Pathologically, cell death results causing separation of the epidermis from the dermis. They differ only in the percentage of body surface involvemet.The incidence is 1 to 6 cases per million people per years (3).Even though the exact pathophysiology is unclear, drugs are the important etiological factor. Drugs particularly sulfonamides, NSAIDS, anticonvulsants, antibiotics are the common offenders (4).After the drug exposure SJS clinically appears within 8 weeks (4 to 30 days).Fever, rhinitis may precede the mucocutaneous lesions by 1 to 3 days.Burning eyes, pain on swallowing progressively develops.The initial skin lesions are dusky erythematous macules which progressively coalese on erythamatous base.The lesions evolve to flaccid blisters and break easily. The typical lesion has the appearance of a target. At pressure points the necrotic epidermis gets detachment exposing the red dermis. Nikolskys sign will be positive. Usually epithelial detachment occurs for 5-7 days followed by re-epithelialisation.In our case also; skin lesions were classical and recovered by 7 days. If less than 10 % of body surface area is involved it is SJS; more than 30 % it is TEN; 10-30 % SJS /TEN(4). 21 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 In 90 % of the cases mucous membrane involement occurs and atleast two or more mucosal surfaces will be involved (3).It begins as erythema followed by erosions of buccal, ocular and genital mucosa. In SJS pain from mucosal ulceration is severe and skin tenderness is absent in contrast to toxic epidermoal necrolysis (4). Individual lesions typically should heal within 1-2 weeks, unless secondary infection occurs. Most patients recover without sequelae like our case.85 % of cases will have conjunctival lesions, manifested by hyperemia, chemosis, photophobia, and lacrimation. Ocular involvement can cause corneal scarring and visual loss (1,3).Pulmonary involvement can occur in 25 % of cases characterised by bronchial hypersecretion and dyspnoea. Some have advocated corticosteroids, cyclophosphamide, plasmapheresis, hemodialysis, and immunoglobulin. The use of steroids is still controversial (5,7,8, 9). The exact mode of action of steroids in SJS/TEN is not known (9). However, the prevailing consensus seems to be that systemic glucocorticoids are justified in the early and evolving disease preferably within the first 72 hours of onset to prevent widespread involvement or during reappearance of erythema and/or necrosis on newly regenerated skin. (6,9). In a report of 52 cases of SJS and 65 cases (2000-2006) of TEN from Japan, the authors have used methyl prednisolone pulse (1251000 mg/day) for 3 days. They have concluded that the mortality rates for patients with SJS and TEN were 1.9% and 6.2% respectively which has decreased from 21.6% (58/269) during previous 17 years (1981-1997) in which period steroids were rarely used (5).Similar observations were made by others also(9,10). Tripathi et al in their report of 67 cases with SJS, 66 cases recovered with steroid therapy (10). Steroid pulse therapy at disease onset is of great therapeutic importance in preventing ocular complications also(11).Given the importance of immune mechanisms in inflammatory drug reactions, IVIG has emerged as a potential immunomodulatory therapy for SJS/TEN(2).IVIG seems to be a useful and safe therapy for children with SJS/TEN. IVIG doses of 0.5 to 1.0 g/kg administered over 3 days are most effective (2). Raised blood urea is marker of severity (3).Anemia, leucocytosis, neutropenia, increased liver enzymes, raised blood glucose can occur.The commonest complication is sepsis due to epithelial loss.Multiorgan failure, lung, ophthalmic complications can also occur. The mortality rate for TEN is 30 % and 5-12.5 % for SJS (1, 3,4). The single most important role for the pediatrician is to detect Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/ TEN) early and initiate the appropriate emergency and inpatient management. Treatment is primarily supportive and symptomatic.Prompt withdrawal of the offending drug and supportive care is very important. Fluid and electrolyte balance is the first priority, along with nutrition support. Denuded skin lesions can be cleaned with saline compresses.A daily examination for infection is a must both clinically and investigation wise. Eyes shoud be taken care by ophthalmologist with vitamin A, antibiotics and lubricants. To conclude, SJS and TEN are variations of the same disease expressed with different severity .They generally begin with a prodrome of high fever, sore throat, and malaise, followed by the rapid onset of cutaneous blistering, mucosal and eye 22 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 involvement. .SJS and TEN are rare but 6) Suresh Kumar.P.N, Biju Thomas, serious disorders with significant morbidity Kishore Kumar, and Shibu Kumar and mortality in children.Steroids seems to .StevensJohnson syndrometoxic be a useful therapy for SJS. epidermal REFERENCES overlap associated with carbamazepine (SJSTEN) use Indian J Psychiatry. 2005; 47: 121 1) Steven J Parrillo, Catherine V 123. Parrillo.Stevens-Johnson Syndrome. eMedicine.Updated: necrolysis 7) Ginsburg May 25, 2010 CM.Stevens-Johnson syndrome in children. Pediatr Infect 2) Denise W. M, Peter J, Moise L. L. Use Dis. 1982; 1:155-8. of Intravenous Immunoglobulin in Children with Stevens - Johnson 8) Cheriyan, Sarah, Patterson, Roy; syndrome and Toxic Epidermal Greenberger, Paul A.; Grammer, Leslie Necrolysis: Seven Cases and Review of C.; Latall, John. The Outcome of the Literature. Pediatrics 2003; Stevens - Johnson syndrome Treated 112:1430-1436. with Corticosteroids.Allergy and Asthma Proceedings.1995; 16:151-155. 3) Valeyrie-Allanore L, Jaean-cLaude r, 9) Sharma VK, Sethuraman G, Minz A. Epidermal Necrolysis.In: Wolff K, Stevens Johnson syndrome, toxic Goldsmith L A,,Katz S I ,Gilchrest B A ,Paller A S ,Leffell D J .editors. epidermal necrolysis and SJS-TEN Fitzpatricks Dermatology in General overlap: A retrospective study of Medicine., 7th Edition, vol-1, New- causative drugs and clinical outcome. york: Indian J Dermatol Venereol Leprol Mc Graw Hill Medical; 2008; 74:238-40 2008.p.349-354 G.Moreli.Vesicobullous 10) Tripathi A, Ditto AM, Grammer LC, disorders. In: Kliegman R M, Jenson H Greenberger PA, McGrath KG, Zeiss B, Behrman R E,Stanton B F.editors. CR, et al. Corticosteroid therapy in an Nelson Text Book of Pediatrics. 18th additional 13 cases of Stevens-Johnson Edition.vol-2, Philadelphia: W B syndrome: A total series of 67 cases. Saunders Company; 2008.p.2685-2688 Allergy Asthma Proc 2000; 21:101-5 4) Joseph 5) Yamane Y, Aihara M, Ikezawa Z. 11) Yamane Y, Aihara M, Ikezawa Z. Analysis of Stevens-Johnson syndrome Analysis of Stevens-Johnson syndrome and toxic epidermal necrolysis in and toxic epidermal necrolysis in Japan from 2000 to 2006. Allergol Int Japan from 2000 to 2006. Allergol Int 2007; 56:419-25. 2007; 56:419-25. 23 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 CASE REPORT - BIOTINIDASE DEFICIENCY IN INFANCY *Dr.Rajashekar Murthy G.V , Dr Sanjay K.S. , Dr.Bharath Kumar Reddy K.R. Abstract: rash around neck and back. Alopecia and seborrheic dermatitis present since birth. Systemic examination revealed an increased tone with exaggerated reflexes. Laboratory investigations revealed normal hemogram, liver functions, and serum ammonia and serum electrolytes. Blood gas analysis showed persistent severe metabolic acidosis, refractory to therapy. CSF was normal Biotinidase deficiency is described in patients with neurological, dermatological, immunological and ophthalmological abnormalities, especially in profound deficiency (<10%). We report a baby who presented with refractory seizures and skin rashes, with abnormal tone. He had a high C5OH levels on TMS, suggestive of holocarboxylase deficiency. Specific enzyme assay showed deficient biotinidase activity of 0.1 nmol/min/mL. On treatment the baby showed response with absence of seizures and disappearance of skin rash. After admission, baby was treated in intensive care for seizures which were difficult to control. In view of poor therapeutic response and suspicious MRI reports, he was investigated further for a metabolic disorder. Plasma and urine amino acidogram was normal. Tandem mass spectrometry revealed increased C5OH levels, suggestive of holocarboxylase deficiency. Specific enzyme assay showed deficient biotinidase activity of 0.1 nmol/ min/mL (normal >5nmol/min/mL). Introduction Biotinidase is a mammalian cell enzyme that occurs at high levels in the liver, serum, and kidney. Multiple carboxylase deficiency responsive to biotin administration was first described in 1971. Wolf and colleagues further characterized the infantile form of multiple carboxylase deficiency as biotinidase deficiency in the 1980s i.It can be profound (<10% enzyme level) or partial (10-30% enzyme level). ii Clinical manifestations include neurological, dermatological, immunological, Picture 1 shows the face and scalp to have an erythemaout rash along with alopecia and seborrheic dermatitis. and ophthalmological abnormalities. We report a case of profound biotinidase deficiency Case Report A 3-month old boy, born of non consanguineous marriage, presented with history of multiple seizures since 2 months of age. MRI brain at that time revealed ischemic changes in the white matter and he was on treatment with phenobarbitone. On admission, he was found to have jitteriness. Skin showed an erythematous He was started on oral biotin (10mg/day) along with Carnitine (100mg/kg).The child improved dramatically within few days with normalization of sensorium and blood gas reports, control of seizures, and disappearance of skin lesions. He was discharged on biotin * Indira Gandhi Institute of Child Health, Bangalore 24 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 typical sleep morphology. Both these findings were seen in our child. Diagnosis can be confirmed by Tandem Mass spectrometry and serum enzyme analysis. supplements and presently doing well after 3 months. Therapy for biotinidase deficiency is oral biotin, typically administered at an initial dose of 10 mg/d. Some patients require higher dosages. If the enzymatic defect is present but does not respond to lower dosages, consider a high-dose therapy (up to 40 mg/d). If children are left with residual neurological disease, they may require treatments for developmental delay, spasticity, and bulbar dysfunction in addition to biotin. With treatment, patients have an excellent prognosis and potential for a normal lifestylevii 1. Wolf B. Disorders of Biotin Metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.p.3935-3962. 2. McVoy, Julie R. Secor; Levy, Harvey L.; Lawler, Michael; Schmidt, Michael A.; Ebers, Douglas D.; Hart, Suzanne; Pettit, Denise Dove; Blitzer, Miriam G. et al. (1990). Partial biotinidase deficiency: Clinical and biochemical features. The Journal of Pediatrics 116 (1): 7883. 3. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991; 14: 923-927. 4. Ramdas Dahiphale, Shreepal Jain, Mukesh Agrawal; Biotinidase deficiency; Indian Pediatrics 2008; 45:777-779 5. Hymes J, Stanley CM. Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat 2001; 18: 375-381. 6. Lott IT, Lottenberg S, Nyhan WL, Buchsbaum MJ. Cerebral metabolic changes after treatment in biotinidase deficiency. J Inherit Metab Dis 1993: 16: 399-400. 7. Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol 2004; 46: 481-484. Discussion The incidence of profound biotinidase deficiency is estimated at 1 per 137,401 population. The combined incidence of partial and profound deficiencies is 1 per 61,067 populations 1 However, only occasional case reports are available in Indian literature. 2 The gene that encodes biotinidase is localized at 3p25. The most common mutation, 98-104del7ins3 (which is present in approximately one half of symptomatic children), has been identified. A second, less common mutation, Arg538 R ? C, has also been described.3 The appearance of symptoms seems to be associated with metabolic stressors (eg, illness, fever, fasting), and children may not be symptomatic until such time. The most common symptom of presentation is seizures. Others include features of developmental delay, ataxia, neuropathy, auditory nerve dysfunction and spastic paraparesis. Dermatological manifestations are particularly striking when they develop; these include alopecia and an eczematous, scaly perioral/facial rash. Although they may be severe, the rash and alopecia typically respond rapidly to biotin administration over days to months. Respiratory problems in these children include hyperventilation, laryngeal stridor and apnea. Most cases with Biotinidase deficiency exhibit metabolic ketolactic acidosis, organic aciduria, and mild hyperammonemia. Children with biotinidase deficiency may demonstrate cerebral edema, low attenuation of white matter signal, cerebral atrophy, and compensatory ventricular enlargement.4 EEG findings prior to treatment demonstrate poor organization of background and absence of 25 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 CASE REPORT: SCHIZENCEPHALY TYPE I A CAUSE FOR STROKE IN CHILDREN *Dr Sanjay K.S, Dr Rajashekar Murthy G, Dr Bharath Kumar Reddy K.R Abstract space with lateral ventricle medially ³³³) Infolding of grey matter along the cleft iv) Multiple associated intracranial malformations including polymicrigyria, absent septum pellucidum, optic nerve hypoplasia. Schizencephaly is a rare developmental disorder of neuronal migration, characterized by early focal destruction of the germinal matrix and surrounding brain before the cerebral hemispheres are fully formed at 1-5 months of gestation .The lesion is most likely related to multiple aetiologies including genetic, toxic, metabolic, vascular or infectious agents. This case is reported due to its rarity. The prevalence of schizencephaly is very uncommon internationally. Case Report: A 15 month old male child presented to us with complaints of inability to move the left upper and lower limbs, noticed by the parents since 5 months of age. The development of the child was mildly delayed in all domains. No history of convulsions was present. The child was delivered full term normally at a hospital with no intrapartum or postpartum complications. Child was the second born of a non consanguineous parentage. On physical examination child had normal head circumference with no dysmorphic features. Anthropometric measurements of weight and length were within normal limits Vision and hearing were normal. Muscle tone showed spasticity in the left lower and upper limbs with exaggerated reflexes. Babinskis sign was extensor on the left side. The child was admitted for evaluation of the etiology of stroke. Hematological and biochemical parameters were within normal limits. CT scan showed a Closes Lip Schizencephaly on the right side with an absent septum pellucidum.. MRI was suggested but the patients were not willing for the same. Counselling was given and physiotherapy was advised. Key Words: Schizencephaly, septum pellucidum, septoptic dysplasia. Introduction Schizencephaly is an uncommon disorder of neuronal migration characterized by a cerebrospinal fluidfilled cleft, which is lined by gray matter. The cleft extends across the entire cerebral hemisphere, from the ventricular surface (ependyma) to the periphery (pial surface) of the brain1. This disorder was originally described by Wadsworth and Yakolev2. The clefts may be unilateral or bilateral and may be closed (fused lips), as in schizencephaly type I, or separated (open lips), as in schizencephaly type II. Schizencephaly can be distinguished from porencephaly by the fact that in schizencephaly the fluid-filled component, if present, is entirely lined by heterotopic grey matter while a porencephalic cyst is lined mostly by white matter . The cardinal neuropathological features are ³)Hemispheric cleft ³³)communication of subarachnoid *Indira Gandhi Institute of Child Health, Bangalore 26 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Picture 1 shows a closed lip schizencephaly resulting in left sided hemiparesis infections and respiratory problems. In closed lip schizencephaly patients may not present until later in infancy and they live upto adulthood. REFERENCES 1. Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. Mar 2009;98(3):421-33 2. Discussion Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, Flurin V, Pedespan In schizencephaly, the neurons border J. Schizencephaly : Clinical imaging the edge of the cleft, implying a very early features in 30 infantile cases. Brain Dev disruption of the usual grey matter migration 2000 Dec ; 22(8)475-83 during embryogenesis. The cause of the 3. disruption is not known, but likely the cause Tietjen, I.; Bodell, A.; Apse, K.; Mendonza, may be either genetic or a physical insult, such A. M.; Chang, B. S.; Shaw, G. M.; Barkovich, as infection, infarction, hemorrhage, toxin or A. J.; Lammer, E. J.; Walsh, C. A. : mutation. As genetic cause, it is found to have Comprehensive EMX2 genotyping of a a mutant gene,EMX2 . The symptoms of large schizencephaly case series. Am. J. schizencephaly are variable. In closed type Med. Genet. 143A: 1313-1316, 2007 1 (Unilateral case)- Mild hemisparesis and 4. seizure but normal development.In open type Gasparetto EL, Warszawiak D, de there is mild to moderate developmental delay Carvalho Neto A, Benites Filho PR, Bruck with hemiparesis. In bilateral clefts there is I, Antoniuk S. Septo optic dysplasia plus severe mental deficits, severe motor anomalies a case report. Arq Neuropsiquitar 2003 including spastic quadreparesis2 MRI is the Sep; 671-6 imaging modality of choice . Treatment 3 consists of treatment of 5. seizures, Morphological features and associated physiotherapy, and in cases that are complicated by hydrocephalus, Hayashi N, Tsutsumi Y, Barkovich AJ. anomalies of schizencephaly in the a clinical population: detailed analysis of ventriculoperitoneal shunt is needed. In open MR images. Neuroradiology 2002 May ; lip schizencephaly the patients die at early age. 44(5):418-27 Death is mainly due to failure to thrive, chronic 27 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 NEONATAL POLYCYTHEMIA A HOSPITAL BASED STUDY * Dr.Narayanappa.D, Dr.N.Rashmi, Dr.Mohan B.K Polycythemia is a silent clinical entity, which if unrecognized can result in significant morbidity. We present a prospective study done on 1362 consecutive inborn babies delivered in J.S.S Hospital, Mysore during the period from 1st July 2004 to 30th June 2005. Babies were considered polycythemic if the venous hematocrit was 65% or more. The incidence of polycythemia was 2.28%. Majority of the polycythemic babies had venous hematocrit between 65 to 66%. Most of the symptomatic and also asymptomatic babies had borderline polycythemia. Hence, the degree of polycythemia did not have any relation with the symptomatology. is relatively simple but controversial. There is no controversy with regard to treatment of symptomatic newborn babies with polycythemia. However, in a newborn with asymptomatic polycythemia, the indication of partial exchange transfusion is not as universally accepted because of lack of controlled data. Management in asymptomatic infants should be individualized. Key words: Neonatal polycythemia, Hematocrit, Symptomatology. Methods Clinical studies reveal some measurable benefits following partial exchange transfusion. Controversy exists with respect to the long term benefits to infants treated with partial exchange transfusion(6). All babies born at J.S.S Hospital, Mysore from 1st July 2004 to 30th June 2005 were included in the study , irrespective of the gestational age and birth weight. Introduction Polycythemia and secondary hyperviscosity are common problems in the newborn period with reported incidence ranging from 1% - 5% in total newborn population(1,2). Criteria for exclusion: -delayed cord clamping. -holding the baby below the level of mothers introitus. The most widely accepted definition is venous hematocrit 65% or greater(1,2,3). Small for gestation age babies(3) and infant of diabetic mother(4) are known to have an increased incidence of polycythemia and hyperviscosity. -cord milking/stripping. In all the cases, the umbilical cord was clamped within 30 seconds after birth of the baby and the babies were held at the level of the mothers introitus. Birth weight was recorded to nearest 10 grams. Gestational age was determined from mothers menstrual history and confirmed by modified Ballards scoring. Intrauterine growth retardation and macrosomia were defined by birth weight according to gestational age, less than 10th percentile and more than 90th percentile, respectively. In India, low birth weight babies represent 30% of all live births each year. More than half of these babies are born at term(5). It is thus obvious that polycythemia could be a real problem existing in our country and babies need to be actively screened for this condition. Treatment of infants with polycythemia *Department of Pediatrics, J.S.S Medical College & Hospital, JSS University, Mysore, Karnataka, India 28 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Capillary hematocrit was determined on blood samples obtained by pricking a neonates prewarmed heel (with medipoint blood lancet) at 2- 4 hours of postnatal age. Consent was obtained from the parent present at the time of the procedure. All capillary hematocrit were determined in duplicate in 17 mm long and 1 mm wide (internal diameter) capillary tubes spun at 10,000 RPM for 5 minutes, in a microhematocrit centrifuge (REMI RM12C ) and the hematocrit read using a reading device (REMI reading device) . - Hb (gm/dl), platelet count (per/mm3), - Blood glucose(mg/dl), serum calcium(mg/ dl), serum total bilirubin(mg/dl). Steps of reading the haematocrit using the reading device: The laboratory abnormalities were defined as follows- Step 1- position the capillary tube in the slot so that the baseline of the reader intersects base of the red cell column. Step 2- move the tube holder so that the top line intersects top of the plasma. • Thrombocytopenia defined as platelet count 1,00,000/mm3. • Hypoglycemia has been defined as blood glucose less than 40 mg/dl irrespective of birth weight and gestational age. • Hypocalcemia has been defined as serum total calcium less than 7.0 mg/ dl. • Hyperbilirubinemia has been defined as serum bilirubin level of more than 12mg/dl. In symptomatic babies, septicemia was excluded by negative sepsis screen (total leucocyte count, ESR, CRP) and blood culture. Lumbar puncture was done in case of convulsion to rule out meningitis and cranial ultrasound was done to rule out any structural anomalies of the brain. Step 3- adjust the knob so that the middle line intersects top of the red cell column. Step 4- read hematocrit (as percent) on the scale. Partial exchange transfusion was performed for the following babies If the capillary hematocrit was 70% or greater, a peripheral venous hematocrit was determined immediately. The infants were considered to be polycythemic if the venous hematocrit was 65% or greater. A repeat hematocrit was performed at 12 hours (or at any age if symptoms appeared) if the initial hematocrit was high. - Those babies with venous hematocrit ≥65% with symptoms. - Those babies with venous hematocrit >70% without symptoms. Asymptomatic babies with a venous hematocrit of 65 to 70 % were only observed. All neonates were examined by the same investigator and the polycythemic babies were categorized as symptomatic and asymptomatic. Particular attention was given to the presence of signs and symptoms attributable to polycythemia. Lethargy, poor feeding, plethora, cyanosis, convulsions, icterus, tachypnea, etc., were looked for. The volume for partial exchange transfusion was calculated using the formula- (observed hematocrit- desired hematocrit)×weight (kg)×blood volume (ml/ kg) observed hematocrit Desired hematocrit was taken as 55%, Blood volume taken as 80ml/kg. The following investigations were sent for all polycythemic babies: 29 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Partial exchange transfusion was done through two peripheral veins. Blood was allowed to drip out freely through a vein using 21-22 gauge disposable needle/ cannula while simultaneous infusion of fluid (normal saline) was carried out through another peripheral vein. Babies were monitored throughout the procedure. Results Total of 1362 babies born consecutively at J.S.S Hospital, Mysore from 1st July 2004 to 30th June 2005 were studied. The overall incidence was 2.28%. Among the polycythemic babies, 15 were males and 16 were females. There was no significant difference in gender (P>.05) among polycythemic babies. 3 out of 16 twins in the study population had polycythemia. Immediate post exchange hematocrit was done using venous blood. Babies were followed up clinically and repeat hematocrit done at 12 hrs of age. Among mothers with abnormal pregnancy, babies born to mothers with PIH constituted the highest number (12 out of 31 cases). Incidence of polycythemia was significantly high in babies born to mothers with PIH, APH, GDM and multiple pregnancy when compared with mothers with no abnormality. (Table I). Effectiveness of partial exchange transfusion was assessed by its efficacy to bring down the hematocrit to desired levels and to maintain it at normocythemic levels and also the improvement in the signs and symptoms of polycythemia. TABLES Table I: Relationship between Maternal Medical and Obstetrical Status and Neonatal Polycythemia. No. of Mother s % of Total No. of Polycythe mic Babies % P value* 1237 90.82% 12 0.97% - PIH 70 5.14% 12 17.14 % .000 Multiple Pregnancy 16 1.10% 3 18.75 % .000 GDM 9 0.66 % 3 33.33 % .000 APH 8 0.58 % 1 12.50 % .000 Cardiac Disease 8 0.58 % - - NS Renal Disease 2 0.15% - - NS Others 12 0.88% - - NS Normal 30 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Among the polycythemic babies (n=31), term babies constituted 77.4% and SGA babies constituted 54.8%. Preterm and post term babies constituted 19.4% and 3.2 % respectively. AGA and LGA babies constituted 41.9% and 6.25% respectively. Majority of the polycythemic babies had venous hematocrit between 65 to 66%. In the asymptomatic group, 8 babies had venous hematocrit of 65-66% and 3 babies had 66-67%. In the symptomatic group, 17 babies had 65-66%, 1 baby had 66-67% and 2 babies had 67-68%. This shows that 85% of the symptomatic babies had borderline high levels of venous hematocrit. The venous hematocrit levels did not correlate with the clinical features. (Table IV). Among the clinical features, lethargy was the most common (61.3%), followed by poor feeding (38.7%), plethora (38.7%), cyanosis (22.6%). Convulsion was seen in one case (Table 2). 11 out of 31 polycythemic babies were asymptomatic. (Table II) Table IV - Frequency distribution of venous hematocrit among polycythemic babies. Table II: Clinical features in Neonatal Polycythemia. Clinical signs and symptoms Lethargy Poor Feeding Plethora Cyanosis Icterus Tachypnea Convulsion Asymptomatic Symptomatic No. of Polycythemic Babies (%) 19 12 12 7 6 2 1 61.3% 38.7% 38.7% 22.6% 19.35% 6.5% 3.2% 11 35.48% 20 64.52% Table III: Laboratory Abnormalities in Neonatal Polycythemia. No. of Cases % 10 32.3% Thrombocytopenia 7 22.6% Hyperbilirubinemia 6 19.35% Hypocalcemia 2 6.5% Hypoglycemia No. of Polycyth emic Cases No. of Asymptomati c babies 65-66 25 (80.6%) 8 (72.8%) 66-67 4 (12.9%) 3 (27.2%) 1 (5%) 67-68 2 (6.5%) 0 2 (10%) Total 31 (100%) 11 No of Symptom atic Babies 17 (85%) 20 This table shows that majority of both symptomatic as well as asymptomatic babies had borderline hematocrit of 65 66%. There was no significant difference between symptomatic and asymptomatic babies with respect to the hematocrit levels (p = 0.4). Hence the degree of polycythaemia could not be related to the symptomatology. Hypoglycemia was seen in 10 cases (32.3%), thrombocytopenia in 7 cases (22.6%), hyperbilirubinemia in 6 cases (19.35%), hypocalcemia in 2 cases (6.5%). (Table III). Laboratory Parameter Venous hemato crit (%) In the present study, 20 babies underwent partial exchange transfusion with normal saline through two peripheral veins. 11 asymptomatic babies partial exchange were only observed. Discussion The present study showed an incidence of neonatal polycythemia of 2.28%. The incidence in the present study compares well with the 1.4 -5 % incidence reported by other workers(7,10,11). Within 31 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 the polycythemic group, term babies and SGA babies constituted the highest. This was similar to studies conducted by L.Krishnan(5), M.Singh(9), S.Singh(11). But Wiswell(10) showed that majority of the polycythemic babies in the growth status group were AGA. levels of venous hematocrit. Hence, the venous hematocrit levels did not have any relation with the clinical features. Points to remember: 1) Polycythemia is a silent clinical entity which if unrecognized can result in significant morbidity and mortality. 2) Close monitoring is necessary as clinical features in polycythemia may be subtle and babies may be asymptomatic. 3) Lethargy was the most common symptom and hypoglycaemia, the most common laboratory finding. 4) The levels of venous hematocrit do not have any relation with the symptomatology. Among the maternal risk factors for the development of neonatal polycythemia, the present study showed that, PIH had significantly (p=.000) high risk of development of neonatal polycythemia. This was similarly seen in studies conducted by Virginia (20.7%) and L.Krishnan (27%) (5,8). The study also showed that other maternal risk factors like GDM, multiple pregnancy, APH significantly increased the incidence of neonatal polycythemia. REFERENCES The most common clinical features seen in this study included lethargy (61.3%), followed by poor feeding (38.7%), plethora (38.7%), cyanosis (22.6%), icterus (19.35%). Other studies showed similar result. Other uncommon manifestations of neonatal polycythemia, like necrotizing entrocolitis, intracranial hemorrhage, priapism were not encountered in the present study, unlike in other studies(12,13). 1. Wirth FH, Goldberg KE, Lubchenco LO. Neonatal hyperviscosity: I Incidence. Pediatrics 1979; 63:833-836. 2. Stevens K, Wirth FH. Incidence of Neonatal hyperviscosity at sea level. J Pediatr 1980; 97: 118 119. Humbert JR, Abelson WE, Battaglia FC. Polycythemia in small for gestational age infants. J Pediatr 1969; 75: 812. Letsky EA. Polycythemia in the newborn. In: Text Book of Neonatology, 2 nd Edn. Eds. Roberton NRC. Edinburgh, Churchill Livingstone, 1992; p 719 723. Krishnan L, Rahim A. Neonatal Polycythemia. Indian J Pediatr 1997; 64:541-6 Goldberg K, Wirth FH, Hathaway WE et al. neonatal hyperviscosity: II. Effects of partial plasma exchange transfusion. Pediatrics 1982; 69: 419-425. Ramamurthy RS, Brans TW. Neonatal polycythemia: I. Criteria for diagnosis and treatment. Pediatrics 1981; 68: 168 174. Kurlat I, Sola. Neonatal polycythemia in appropriately grown infants of hypertensive mothers. Acta Paediatr 1992; 81(9):662-4 3. 4. In the present study, 35.48 % of the polycythemic babies were asymptomatic. This was similar to the study conducted by Wiswell(10). Most common laboratory abnormality seen in neonatal polycythemia in this study was hypoglycemia (32.3%), followed by thrombocytopenia (22.6%), hyperbilirubinemia (19.35%) and hypocalcemia (6.5%). Other studies also showed that hypoglycemia was the most common laboratory abnormality associated with polycythemia. 5. 6. 7. Majority of the babies had venous hematocrit in the range of 65-66% (25 out of 31). In the asymptomatic group, 8 babies had hematocrit of 65-66% and 3 babies had 66-67%. In the symptomatic group, 17 babies had hematocrit of 6566%, i.e; 85% of the symptomatic babies had borderline high 8. 32 Karnataka Paediatric Journal 9. Vol. 25, No. 2 Apr. - June 2011 Singh M, Singhal PK, Paul VK et al. Polycythemia in the newborn Do asymptomatic babies need exchange transfusion? Indian pediatr 1990; 27: 61-65. 11. Singh S, Narang A, Bakoo O N. Polycythemia in Newborn. Indian Pediatr 1990; 27: 349-353. 12. Hankanson DO, OH W. Necrotizing enterocolitis and hyperviscosity in the newborn infant. J Pediatr 1977; 90: 458461. 13. Black VD, Lubchenco LO. Neonatal polycythemia and hyperviscosity. Pediatr Clin North Am 1982; 29: 1137-1148. 10. Thomas E, Wiswell MC, Dern Cornish MC. Neonatal polycythemia: Frequency of clinical manifestations and other associated findings. Pediatrics 1986; 78: 26-30. 33 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 CONGENITAL EMPHYSEMA: A CASE REPORT *Roopa.Mangshetty. Sharangouda Patil. Shrikanth.S.W. Hosgouda Kiran. Respiratory system examination revealed tachypnoea, subcostal retractions, nasal flaring, Spo2 = 85% with 5 liter of O2/ min, decreased chest movements over the right side of chest, bulging noticed over right hemithorax, hyperresonent note over left side of chest and decreased air entry over right side of chest. Routine investigations, Chest x ray and CT thorax was done ABSTRACT: This report describes congenital emphysema of left lung in a 25 day old neonate who presented with cough, fever followed by breathlessness and bluish discoloration of lips and limbs. KEY WORDS: Respiratory distress, Emphysema, Atelectasis, adrenal cyst. INTRODUCTION: Pulmonary Emphysema is distension of air spaces with irreversible disruption of alveolar septa. It can generalized or localized. Congenital Emphysema can result in severe respiratory distress in early infancy and can be caused by localized obstruction. Familial occurrence has been reported. Only in 50% of cases, a cause of congenital emphysema can be identified. INVESTIGATIONS: CASE REPORT: Hb- 17.9 gm/dl,TC- 13,100 cells/ mm3,DC= P- 42%, L- 57%, E-1%,ESR- 10 mm/ 1st hour A 25 day old term neonate named Saidu S/O Jaganath Karikal resident of Afzalpur, Gulbarga was admitted in our PICU on 26/01/11 with chief complaint of Cough andFever- since 4 days, Breathlessness since 2 days,Bluish discoloration of lips and limbs 2 days Cheat X ray This child was born to a 2nd degree consanguineous couple, and birth history was uneventful. This is the 4th child of the couple and other siblings are keeping in good health. On examination, Pulse- 168/ min, BP- 60/40 mm of Hg , RR- 58 cycles/ min , Head circumference 34 cms Chest circumference- 32 cms(Right 17 cm, Left- 15 cm) , Length- 54 cms, Weight- 2.75 kg. C T Torax *From Department of Pediatrics Mahadevappa Rampure Medical College Gulbarga-India 34 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Patchy areas of atelectasis noted in posterior basal segment of right lower lobe with loss of lung volume on right side Hyperinflated left lung possibly compensatory emphysema,Shift of mediastinum and cardia to right, herniation of left lung to right hemithorax, Wedge shaped soft tissue attenuation in posterior basal segment of right lower lobe of lung. 2) Karnak I, Senocak ME, Ciftci AO, et al: congenital lobar emphysema: diagnostic and therapeutic considerations. J pediatr journal 1999; 34: 1347-1351 3) Chao MC, Karamzadeh AM, Ahuja G: congenital lobar emphysema: an otolaryngologic perspective. Int j pediatr otorhinolaryngol 2005; 69: 549554 4) Mei- Zahar M, Konen O, Manson D, Langer JC: is congenital lobar emphysema a surgical desease? J Pediatr surg 2006; 41: 1058-1061 5) Cumming JR, Macpherson RI, Chernick V: unilateral hyperlucent lung syndrome in children. J pediatr 1971: 78; 250-260. Treatment: Injection Ceftriazone, Injection Amikacin, Ambrodyl drops, Normal saline nebulisation REFERENCE: 1) Horak E, Bodner J, Gassener I et al: congenital cystic lung disease: diagnostic and therapeutic considerations. Clin pediatr 2003; 42: 251-261 35 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Nephrology Section HYPOTHYROIDISM & NEPHROTIC SYNDROME A CAUSE OR EFFECT ? *Nithya T, B Sanjeev Rai, Habib Ullah Khan, Aby Dany Varghese Abstract : A 3 year old girl with clinical hypothyroidism with low T4 and elevated serum TSH levels had associated nephrotic range of proteinuria with elevated lipid profile. Treatment with steroids and thyroxine replacement showed improvement in clinical and laboratory parameters. past 4 months. Present investigations revealed hypoalbuminemia (1.2 g/dl), hypercholesterolemia (487mg/dl), hypertriglyceridemia (602mg/dl) and proteinuria (urine protein creatine ratio6.13). Renal function tests were within normal limits. Serum C3 level was normal. Abdominal ultrasound revealed mild ascites with normal kidneys. Radiological evaluation showed normal bone age. The blood levels of total T3 and T4 were 0.92 (0.8-2.0) and 4.58 (5.1- 12.0) respectively. TSH was mildly elevated6.13 ( 0.27-4.2). Antithyroid antibodies were negative. Urinary T3 and T4 was detectable (1.09 and 1.17 respectively). Keywords : Nephrotic syndrome, hypothyroidism, proteinuria Introduction Nephrotic syndrome in children is not an uncommon entity. Although functional hypothyroidism is known to occur in nephrotic syndrome, clinical hypothyroidism is an unusual association1.We report a case of nephrotic syndrome with clinical hypothyroidism. The child was started on oral steroids (60mg/m 2/day) and thyroxine (10mcg/kg/day). Proteinuria resolved within a week of treatment and showed clinical signs of improvement disappearance of edema, better activity and apetite. A 3 year old girl presented with history of constipation, poor activity and global developmental delay. She was a term baby, appropriate for gestational age , born of a non consanguineous marriage. Physical examination findings included coarse facies, periorbital puffiness, low set ears, dry skin, umbilical hernia, mild ascites and hypotonia. Developmental and mental age was around 11/2 years . Anthropometric measurements were within normal limits. Developmental delay was noticed at 8 months of age, for which she was evaluated. Thyroid function tests done then, were normal. She had documented proteinuria for Discussion Nephrotic syndrome is characterized by a marked increase in glomerular permeability and presents with proteinuria, hypoproteinemia, edema and hypercholesterolemia.2 * Department of Pediatrics, Father Muller Medical College,Mangalore 36 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Proteinuria occurs due to changes in capillary endothelial cells, the glomerular basement membrane, or podocytes, which normally filter serum protein selectively by size and charge. This results in urinary loss of macromolecular proteins, primarily albumin but also opsonins, immunoglobulins, erythropoietin, transferrin, hormone-binding proteins ( including thyroid-binding globulin and vitamin D-binding protein), and antithrombin III. and grwth hormoneIGF-1 system6. Urinary loss of thyroglobulin, free T4 ,T3 with consequent fall in T3, T4, TBG levels and rise in TSH are documented in children with untreated nephrotic syndrome and are reversible with disease remission or following bilateral nephrectomy and renal replacement therapy .3,4 There is a positive correlation between serum albumin and T4 levels ; and degree of proteinuria and urinary loss of T4. This is supported by normalization of thyroid indices with onset of remission of nephrotic syndrome .5 References In summary, there is an existence of hypothyroid state in some infants with nephrotic syndrome. Also, increasing thyroxine requirements in a case of hypothyroidism should be evaluated for proteinuria. Routine thyroid screening and early replacement therapy if required, may be recommended for all children with nephrotic syndrome. In our patient, hypothyroidism was manifested with low T4 and elevated TSH levels. Absence of thyroid antibodies and goiter ruled out autoimmune etiology. Normal thyroid function tests in the first year of life and normal bone age in Xray suggests that congenital hypothyroidism is unlikely. Loss of thyroid hormone in urine seems the likely explanation for rising TSH levels in this child. Thyroid hormone replacement has resulted in clinical improvement, which may be tapered and stopped after attaining remission of nephrotic syndrome5. 1. Muranjan MN, Kher AS, Nadkarni UB, Kamat JR. Congenital nephrotic syndrome with clinical hypothyroidism. Indian J Pediatr 1995;62:233-5. 2. Trouillier S,Delevaux I, Rance N et al. Increasing thyroxine requirements in primary hypothyroidism: dont forget the urinalysis! J Postgrad Med 2006;52:201-3. 3. Carpi A, Romano F, Massitelli M, Ciardella F . Low protein supplemented diet corrects altered serum thyroid hormone and TSH concentrations in patients with chronic nephrotic syndrome. Thyroidology 1990;2:89-92. 4. Chadha V, Alon US. Bilateral nephrectomy reverses hypothyroidism in congenital nephrotic syndrome. Pediatr Nephrol 1999;13:209-11. 5. Fonseca V, Thomas M, Katrak A, Sweny P, Moorhead JF. Can urinary thyroid hormone loss cause hypothyroidism? Lancet 1991;338:475-6. Haffner D, Tonshoff B, Blum WF, Vickers M, Siebler T, Cronin MJ, et al. Insulin-like growth factors (IGFs) and IGF binding proteins, serum acid-labile subunit and growth hormone binding protein in nephrotic children. Kidney Int 1997;52:80210. Glomerular disease giving rise to protein loss with associated endocrine dysfunction is not confined to thyroid and clinicians should be alert to alterations in other hormone systemsnotably hypothalami-pituitary-adrenal axis 37 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 COMMON PITFALLS IN PROBLEMS IN CHILDREN DIAGNOSING RENAL *Dr Arpana Iyengar and renal dysplasia. In these conditions there is suboptimal growth inspite of normal renal function. Growth retardation is a hallmark of chronic renal failure, children with an underlying tubular disorder being the worst affected. Correcting metabolic acidosis helps to optimize growth. Diagnosing renal disorders in children is challenging as manifestations of renal disease are vague and subtle. In addition, many of the signs and symptoms of renal disease mimic or simulate other systemic diseases. It is therefore crucial for us pediatricians to have a high index of suspicion and bear in mind the clinical diversity of kidney disease. Anemia: This could be the only clue to a probable diagnosis of a renal disease. Anemia is predominant in connective tissue diseases, hemolytic uremic syndrome, acute renal failure secondary to malaria and intravascular hemolysis.Chronic anemia that is refractory to iron therapy should be considered as a clue to exclude chronic renal failure. The two important categories of kidney diseases that present with contrasting clinical scenarios are glomerular disease and tubular disease. A typical glomerular disease (nephrotic syndrome, glomerulonephritis, hemolytic uremic syndrome) will present with any of the following features of edema, oliguria and proteinuria with or without hematuria and hypertension. On the contrary, a tubular disease (renal tubular acidosis, Barters syndrome, and nephrogenic diabetes insipidus) manifests as failure to thrive, growth retardation, polyuria and polydipsia with or without bony deformities. A glomerular or a tubular disease could present as acute renal failure/ acute kidney injury or progress to chronic renal failure / chronic kidney disease. Bony deformities: Every bony deformity in childhood is not rickets. However, various forms of rickets in many children get missed and they end up receiving orthopedic treatment. It is therefore absolutely necessary for us to screen for nonnutritional rickets in children with significant bony abnormalities. Rickets is always diagnosed based on biochemical and radiological findings. Growth retardation, polyuria and polydipsia associated with rickets could indicate renal tubular acidosis or Barters syndrome. Rickets predominantly affecting the lower limbs associated with teeth abnormalities and short stature without polyuria or polydipsia is characteristic of hypophosphatemic rickets. Renal osteodystrophy presents as bony deformities and is a hallmark of chronic renal failure. Hematuria, oliguria and edema are obvious clinical markers of renal disease. However there are several other markers that need to be addressed which help us not miss an underlying renal disease. The RED FLAGS: Growth: Failure to thrive, growth retardation or short stature are predominant manifestations of renal diseases like renal tubular acidosis, Barters syndrome, nephrogenic diabetes insipidus, vitamin D dependent and resistant rickets, vesicoureteral reflux, polycystic renal disease Hypertension: Childhood hypertension can be asymptomatic. It is most often an incidental finding picked up during routine examination. This emphasizes the need for a regular annual blood pressure recording in all children above 3 years of age. Children at risk for hypertension are growth restricted *Associate Professor, Division of Pediatric Nephrology,Department of Pediatrics, St Johns Medical College Hospital, Bangalore 560034 38 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 neonates, obese children, children with recurrent urinary tract infections, on medications like steroids, cyclosporine and following a glomerular disease. Hypertensive crisis could mimic meningitis or encephalitis with vomiting, headache, altered sensorium and seizures. A finding of asymmetry in the size of the kidneys will give a clue to diagnosis of renal artery stenosis. Reflux nephropathy with renal scars could present with hypertension. Hypertension is a manifestation of both acute and chronic renal failure. normal urine output in the presence of moderate to severe dehydration should raise the possibility of an underlying tubular disorder. Polyuria is most often missed as a significant cause for failure to thrive and recurrent dehydration. Urine: Recurrent symptoms: Recurrence of symptoms is the key to diagnosing many renal disorders. Recurrent fever could be a manifestation of urinary tract infection, recurrent vomiting could due to metabolic acidosis in renal tubular acidosis, recurrent episode of dehydration indicates polyuric tubular diseases, recurrent hematuria goes against a post streptococcal glomerulonephritis and recurrent edema is characteristic of nephrotic syndrome. Systemic manifestations: Prolonged fever, joint pains, skin rashes associated with hematuria, proteinuria or hypertension usually indicates connective tissue disease or Henoch Scholein purpura nephritis. Fever without respiratory symptoms in infants should prompt us to rule out urinary infection. Analysis: In day to day practice, transient urinary abnormalities accompany systemic diseases. Febrile illness can present with transient proteinuria and microscopic hematuria. It is important to closely follow up these findings even after the child recovers from the acute illness. Persistent proteinuria or microscopic hematuria for more than 2-3months needs a detailed evaluation inspite of the child being asymptomatic to rule out Ig A nephropathy, Alports disease and connective tissue disease. Microscopic hematuria may be a presentation of stone disease or hypercalciuria. The presence of white blood cells in urine could indicate urinary infection or intake of nephrotoxic drugs like NSAIDs causing interstitial nephritis. Syndromic associations: Markers for a kidney disease at birth would include abnormal antenatal renal scans (oligohydramnios, polyhydramnios, hydronephrosis, spinal defects), a single umbilical artery, ear lobe defects, spinal and genital deformities, a palpable bladder or renal mass, hypoplastic lungs and Potters facies Positive family history: A positive family history for renal disease could guide us make a diagnosis in children with vescicoureteral reflux, genetic forms of nephrotic syndrome, tubular disorders and Alports syndrome. Therapeutic indicators: Drugs need dose corrections in the presence of renal failure and prolonged use of diuretics or aminoglycosides need regular monitoring of serum creatinine. Children with nephrotic syndrome in shock should be treated with albumin if they are unresponsive to fluid bolus. To conclude detecting renal diseases in children is a challenge which we can overcome with a detailed history taking and meticulous examination. It would be essential to bear in mind the common pitfalls in order to avoid missing a diagnosis of renal disease. Stream: Enquiring about the urinary stream, the flow, interruption or intermittent stream is important and could be the only complaint in children with an underlying posterior urethral valve or neurogenic bladder. Every enuresis is not night time bed wetting. Associated features of voiding dysfunction need to be excluded in children with bedwetting. Output: Decreased urine output is a straightforward symptom of renal disease. However it may be a symptom even when renal functions are normal like in children with nephrotic syndrome and glomerulonephritis. In situations of acute renal failure, one can have decreased, increased or even normal urine output. Therefore urine output is not a reliable indicator of renal functions. A 39 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 EVALUATION OF A CHILD WITH POLYURIA *Dr. Nagamani Agarwal 3. Failure of renal response to ADH Nephrogenic diabetes insipidus(x linked recessive) Acquired unresponsiveness to ADH Obstructive uropathy Chronic pyelonephritis Reflux nephropathy Hypokalemia Hypercalcemia/nephrocalcinosis Sickle cell disease Chronic renal failure due to interstitial nephritis Drug induced-ampotericin,lithium, tetracycline Polyuria is defined as urine output more than 4ml/kg/hour. Polyuric child voids large amount of urine during day and night as well. Polyuria is usually associated with polydipsia which refers to excessive thirst and intake of large volumes of liquid to quench the thirst. Accurate measurement of 24 hours intake of fluids and urine output should be done to establish the diagnosis of polyuria. It is important to distinguish polyuria from frequency of micturition where small volume of urine passed frequently though the 24 hours urine output is within normal limits . Polyuria may result from excessive fluid intake (psychogenic polydipsia ), increased osmotic load(solute diuresis), failure to produce ADH(central diabetes insipidus)or unresponsiveness to the action of ADH in kidney(nephrogenic diabetes insipidus). The final osmolality of the urine is solely dependent on water permeability of collecting ducts which is controlled by ADH. Causes of polyuria in children 1.Solute diuresis(increased osmotic load) Diabetes mellitus(due to glycosuria) Hypercalcemia(due to hypercalciuria) Bartter syndrome(due to sodium chloride) Renal tubular acidosis(due to sodium bicarbonate) 2. Failure of ADH production(central diabetes insipidus-hypothalamic /pituitary disorders) Pituitary tumour Post hypophysectomy Infections-meningitis, encephalitis, tuberculosis Basal fracture Vascular aneurysm or thrombosis 4. Psychogenic or Primary polydipsia Children with polyuria due to pathological conditions may present with failure to thrive, polydipsia, nocturnal enuresis,febrile episodes due to dehydration and convulsion. Failure to thrive is because the constant increased intake of fluids limits their appetite. Repeated episodes of dehydration may result in mental retardation. A thorough history and physical examination may provide clues to the cause of polyuria. Frequency of voiding and drinking particularly at night is useful information to assess the severity of the probem. Physical examination should include assessment of growth,anemia, hypertension, bony deformities, renal or bladder mass, evidence of dehydration and ophthalmic evaluation. Investigations and practical approach First step is to confirm the presence of polyuria by quantifying the 24 hours urine * Associate Professor of Pediatrics, JJMMC, Davangere 40 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 test is to induce mild dehydration and thus challenge the kidneys to preserve water. If child presents with hypernatremia, this test is not necessary. The test carries the risk of severe hypernatremic dehydration especially in infants. output. Decide whether polyuria is associated with polydipsia and failure to thrive Estimate blood sugar to exclude diabetes mellitus and serum creatinine for renal failure .Rule out hypokalemia and hypercalcemia .Arterial blood gas analysis is essential when renal tubular acidosis or Bartters syndrome are suspected .Urine should be tested for pH,specific gravity, sugar, protein and pyuria. Ultrasonography of KUB region with MCU(micturiting cystourethrogram) or IVP(intravenous pyelography) to diagnose reflux nephropathy and obstructive uropathy .CT scan and MRI of brain may be needed when central diabetes insipidus is suspected.Urine and plasma osmolality should be assessed to decide if water diuresis is the cause of polyuria. Isoosmolar /hyperosmolar urine is found in children with solute diuresis or normal children. Ratio of Urine and plasma osmolality is more than 1.5. In children with water diuresis (diabetes isipidus and psychogenic polydipsia) urine is hypoosmolar and ratio is less than 1. Water is withheld for 8 to 12 hours. Child is frequently weighed and closely observed. The test should be stopped if weight loss exceeds 5%. The period of water deprivation should not exceed 4 hours in infants and 8 hours in children. Urine specific gravity and osmolality ,plasma osmolality and serum sodium are tested every 3 to 4 hours and at the end of the test . Following water deprivation normal child can achieve a urine osmolality of over 900 mosm/kg and ratio of urine to plasma osmolality exceeds 1.5. Children with diabetes insipidus(central or nephrogenic) fail to show a rise of urine osmolality which remains below 300 mosm/kg water and ratio is less than 1.Vasopressin test should be done to differentiate central from nephrogenic diabetes insipidus. Children with primary polydipsia concentrate urine to varying degrees (>500mosm/kg) as prolonged polyuria affects concentrating ability of kidney due to washout of the medullary counter-current concentration mechanism. Water deprivation test should be done only in selected patients suspected to have water diuresis. It helps to differentiate diabetes insipidus from psychogenic polydipsia. The aim of water deprivation Approach to a child with polyuria. 41 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 APPROACH TO ANTENATALLY DETECTED HYDRONEPHROSIS *Dr. R. Premalatha Twenty two years old pregnant woman was referred to pediatric OPD with history of antenatal left renal hydronephrosis detected at 30 weeks of gestation, for advice regarding continuing her pregnancy. We looked at the following parameters. Fetal growth and liquor volume was adequate. Hydronephrosis was unilateral and there were no other major congenital malformations. Hence she was advised to continue her pregnancy and to review soon after the delivery. follow up to detect and treat urinary tract infection. This case illustrates that antenatally detected hydronephrosis requires close follow up, imaging and surgical or conservative management. In fetus, urological abnormalities are the most common, with the incidence being 1 in 100. 50% of all abnormalities detected by prenatal ultrasound are due to hydronephrosis. Significant Hydronephrosis: On antenatal scan pelvic diameter >10mm at 24-26 weeks gestation, ratio of anterio-posterior (AP) pelvic diameter to AP renal diameter greater than 0.5 and caliectasis indicate significant hydronephrosis. She delivered a normal weight male baby at term. There was no abdominal mass or palpable bladder. Urine stream was good and the baby was feeding well. Baby was started on antibiotic prophylaxis with cephalexin and post natal ultra sound was done on day 5, which showed left sided moderate hydronephrosis. At 6 weeks of age diuretic renogram showed left sided pelviureteric junction obstruction with differential renal function of 30% in left kidney. Subsequently, micturating cystourethrogram (MCUG) was done after administering gentamycin 3mg/kg ½ hour before the procedure, which revealed right sided grade 2 vesico-ureteric reflux (VUR). Major causes: } Physiologic or non-obstructive dilatation of upper urinary tract refers to mild dilatation, where no cause is found and is transient. } Pelviureteric junction obstruction. } Vesico-ureteric reflux. } Posterior urethral valves. } Ureterocoele Left PUJ obstruction with decreased differential function was managed with pyeloplasty and right grade 2 VUR was managed conservatively with antibiotic prophylaxis. The infant was advised close } Vesico ureteric junction obstruction. } Multi cystic dysplastic kidneys. * Professor of Paediatrics, Paediatric Nephrologist .Bangalore Medical College & Research Institute (BMCRI) K.R. Road, Bangalore 560002 42 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Prenatal management: few days of life causes renal pelvis to shrink transiently. If first ultrasound is Obstruction to urine flow occurring normal it is repeated after 3 months. If before 24 weeks of gestation causes hydronephrosis is detected on post natal dysplastic changes identifiable by an ultrasound, at 6 weeks of age MCU and increase in echogenecity of kidneys or diuretic renogram are done. Diuretic cortical cysts. If the obstruction is bilateral renogram done at 6 weeks is more accurate, and severe, amniotic fluid volume is due to increased maturity of nephrons and reduced and pulmonary hypoplasia occurs. This may produce respiratory distress in the increased GFR. MCU is done to detect new born and need for ventilation. Hence, vesico-ureteric reflux & posterior urethral in presence of oligohydramnios, fetal growth valves. Diuretic renogram is done to detect restriction and other major congenital pelvi-ureteric junction obstruction. anomalies detected before 24 weeks, If hydronephrosis is severe or bilateral pregnancy may be terminated. After 32 weeks of gestation, fetus or present in a solitary kidney or bladder is is delivered palpable urgent evaluation and management prematurely in a tertiary hospital, if lung is required. As complete obstruction has a maturation is adequate and facilities are potential to cause renal damage, urethral available for management and obstruction is catheter should be passed immediately to managed postnatally. Fetal surgeries and drain the bladder and urgent U/S and management of cases between 24 to 32 MCU are done. If first ultra sound is weeks is controversial. Bilateral hydronephrosis normal, it is repeated after 5 days. After without oligohydramnios and unilateral release of obstruction, there will be a hydronephrosis do not need intervention diuretic phase requiring close monitoring Post natal management: and replacement of fluid and electrolytes. Neonates are assessed for abdominal Uro-sepsis has to be detected early and mass due to hydronephrosis or palpable treated adequately. In bilateral cases renal bladder. Urine stream is observed and urine function and electrolytes may be abnormal. examined to detect urine infection. They are Note that neonates take 1 week to started on prophylactic antibiotic like stabilize their s.creatinine to normal level of cephlexin 10mg/kg, single daily dose for 0.4mg/dl from higher s.creatinine level at first 3 months and thereafter septran 3mg/ birth which reflects maternal level. kg or nitrofurantoin 1mg/kg is continued for 1year, to prevent urine infection. If imaging Early detection of cases requiring detects obstruction, prophylactic antibiotics surgery and prompt referral to surgeons is are stopped, to prevent emergence of important. All children, whether managed resistant organisms. conservatively or surgically, require close monitoring for UTI, hypertension, protinuria First ultrasound is done 5 days after and renal growth & function. birth, as physiologic oliguria during first 43 Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011 Conclusion: References: Majority of antenatally detected hydronephrosis resolve spontaneously. It is important to evaluate at birth, monitor and timely imaging to detect those requiring early surgery, so that impairment in renal function is prevented. Prophylactic antibiotic is started in all neonates with hydronephrosis, to prevent UTI. 44 1. Consensus Statement on Management of Antenatally Detected Hydronephrosis. IPNG.IAP Indian Pediatrics; 38: 1244-1251. 2. Gillenwater, et al. Adult and pediatric urology, 4th ed. Vol 1 2002, Lippincott Williams and Wilkins, USA. Karnataka Paediatric Journal Reg.no.RN/68641/23/AL/TC/92 Vol. 25, No. ISSN 2 Apr. 09755152 - June 2011 Antimicrobial Resistance: No action today, No cure tomorrow Is It Essential Is the right Dose & Duration 4 Way Test Is the Best & First line drug Is It Economical and beneficial to the patient The Antimicrobial drugs therapy we think, say or do Edited & Published by Dr.B Sanjeev Rai, Medicare center, Karangalpady, Mangalore 575003. and Printed at Shrathi Printers & Publishers.Pvt. Ltd.Baikampady. Mangalore 575001 Editorial Office : Medicare Center, Karangalpady, Mangalore 575003, 45 email: [email protected]
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