Diagnostic Challenges in a Young Female with Lupus
Rajiv Swamy
Pritzker School of Medicine, University of Chicago, Chicago IL.
A 31 year-old AAF with a history of systemic lupus erythematosus (SLE) presented with
a 4-day history of progressive left sided weakness and numbness of her upper and lower
extremities. The patient first noticed the symptoms when bathing her son and described her
weakness as difficulty holding things in her left hand and felt that she was falling consistently to
the left side. Soon after, she began to notice a burning pain on her left side that radiated down
her extremities and two episodes of urinary incontinence. The patient denied any constitutional
symptoms such as fever, chills or weight loss. Neurologic examination revealed markedly
decreased left-sided strength and sensation and hyperreflexia. The patient also demonstrated an
ataxic gait. The patient underwent a lumbar puncture. CSF glucose was 55 mg/dL, protein was
34 mg/dL, with minimal WBC. Serum electrolytes and CBC were all within normal limits and
the patient was negative for anticardiolipin antibodies. A head CT scan revealed no focal
findings. A cervical MRI revealed increased signal enhancement in the C2-C7 region. This
MRI finding was consistent with a suspected diagnosis. Therapy was initiated with intravenous
methylprednisolone (MP) pulse (1g/24hr) for five days followed by a single intravenous
cyclophosphamide (CP) bolus (0.75mg/m2). The patient noted marked improvement after the
initial steroid treatment with near complete resolution on the seventh day. The patient was
discharged home and continued on prednisone (60mg/day) with no recurrence over the
subsequent 2 weeks.
Entities in the differential diagnosis included embolic stroke, seizure, lupus vasculopathy,
and spinal neuropathy. Neurologic symptoms may occur in up to 60% of patients that have SLE
but this patient’s findings are representative of a rare diagnosis of transverse myelitis1. This
condition, with its often sudden and dramatic presentation, is a rare neurologic syndrome
associated with SLE that poses a particular diagnostic challenge. Due to the rapid progression of
symptoms, this case shows that early recognition of this syndrome should become an important
goal of clinicians. This case also corroborates prior studies that demonstrated greatest
symptomatic improvement with treatment consisting of IV CP in addition to IV MP with
tapering doses of oral corticosteroids2. In the future, studies need to be directed at targeting the
mechanism of this condition, so that attempts can be made to prevent this rare but serious
complication of SLE.
1. West SG. Lupus and the Central Nervous System. Curr Opin Rheum 1996; 8:408.
2. Barile L et al. Transverse myelitis in systemic lupus erythematosus: The effect of IV pulse
methylprednisolone and cyclophosphamide. Journal of Rheum 1992; 19:370.
A Case of Ascites of Unknown Etiology
James T. Kwiatt
Loyola University Stritch School of Medicine
Maywood, IL
Ascites is the accumulation of fluid in the peritoneal cavity. Several disease processes,
including cirrhosis, cancer, heart failure, and tuberculosis are known to cause the condition. With
cirrhotic liver disease causing over 80% of cases of ascites, some less common etiologies of
ascites are often overlooked.
We report a case of a 78-year-0ld female with a two-week history of abdominal
distention, polydypsia, and weight gain. The patient had no prior history of abdominal distention,
heart disease or liver disease. Liver injury tests were unremarkable, and Hepatitis A, B, and C
serologies were all negative. Abdominal ultrasound confirmed the presence of ascites, and
aparacentesis was performed with placement of a peritoneal drai. Analysis of the fluid indicated
a serum ascites albumin gradient of 1.5 gm/dl. A cardiac etiology was evaluated as the cause of
the ascities, however echocardiogram was normal. Liver biopsy demonstrated no evidence of
cirrhosis. Measurement of TSH was 169.29, which indicated a diagnosis of myxedema ascites.
Treatment with synthroid and diurectics led to the resolution of the patient’s symptoms.
This case reports a rare cause of ascites. Conditions such as lymphatic trauma,
Chlamydia peritonitis, nephritic syndrome, systemic lupus, hypothyroidism and AIDS have been
reported to cause ascites in less than 2% of cases. Hypothyroidism was determined to be the
cause of this patient’s pathyol9gy due to the elevated TSH, unremarkable echocardiogram,
normal liver enzymes and biopsy, and resolution following treatment with synthroid. Myxedema
ascites often persists for more than eight months before a proper diagnosis is made. Given the
rapid resolution of the disorder following a relatively simple treatment, it is important for
physicians to be award of non-hepatic causes of ascites, including hypothyroidism.
Colon in Crisis Histoplasmosis Masquerading as Colon Malignancy
Eric Yang, MSIII
University of Illinois College of Medicine
Chicago, IL
The patient is a 44-year-old HIV-positive female with a CD4 count of 3 and a past
medical history of disseminated Histoplasmosis, who was admitted with right lower quadrant
abdominal pain for 4-5 weeks. The patient reported that the pain was exacerbated by eating and
relieved with bowel movements. She also reported having a greenish vaginal discharge,
episodes of fever, diaphoresis and non-bloody diarrhea. The patient was on antiretroviral and
antibiotic regimens but was noncompliant.
Examination demonstrated cervical motion tenderness with significantly tender bilateral
adnexa. The abdominal exam demonstrated rigidity and guarding, especially in the right lower
quadrant. An abdominal CT scan showed nodular thickening of the all of the cecum and
ascending colon consistent with tumor or colitis. Stool was negative for AFB, Crytococcus, and
Clostridium difficile. A colonoscopy showed a large polypoid malignant appearing tumor in the
ascending colon and multiple sessile polypoid lesions throughout the rest of the colon. PAS,
GMS, and Giemsa stains of the biopsied mass were positive for histoplasmosis.
Histoplasmosis presenting as polypoid lesions in the colon is rare, with a relative lack of
literature surrounding such cases. The patient was educated on compliance of medications, and
the polyps resolved with antifungal therapy.
Metastatic Islet Cell Tumor As a Source of Cushing’s Syndrome
Ted Huang
Medical Student; Southern Illinois University- School of Medicine;
Springfield, IL.
Ectopic ACTH secretion accounts for 15% of patients with Cushing's syndrome. The most
common cause is small cell lung carcinoma, responsible for up to 75% of cases. In half of the
patients with ectopic ACTH secretion, the source of ACTH cannot be found despite an extensive
A 24 year old male presented to the emergency room with abdominal pain and a 6 month history
of 20 pound weight gain, hyperphagia, fatigue, myalgia, polydipsia, nocturia, retroorbital
pressure, diplopia, and paresthesia of extremities. Physical exam revealed an elevated blood
pressure of 180/125, papilledema, facial swelling, prominent neck hump, gynecomastia,
acneiform rash of the back, and purple striae of the abdomen and trunk. Labs revealed a
potassium of 2.2, pH of 7.48, PaCO2 of 48, PaO2 of 69, and HCO3 of 36. Elevated levels of
urinary free cortisol, serum cortisol, and ACTH were also recorded. The patient was admitted
and started on a nitroglycerin drip, spironolactone, and aggressive potassium replacement.
Imaging studies included an MRI of the head which showed a normal pituitary and CT scans of
the chest, pelvis, and abdomen that revealed normal lung findings, normal appearing adrenals,
and a 5 cm mass in the tail of the pancreas with diffusely enhancing lesions of the liver.
Subsequent liver biopsy demonstrated metastatic islet cell carcinoma negative for both ACTH
and CRH on immunohistochemical staining. An octreotide scan showed no distant sites of
metastases. Gastrin, VIP, glucagon, somatomedin C, metanephrines, testosterone, TSH, and 5HIAA levels were not elevated. The patient was preemptively diagnosed with Cushing's
syndrome secondary to metastatic tumor of islet cells and started on somatostatin, streptozocin,
and doxorubicin. He refused bilateral adrenalectomy and was begun on Mitotane 1 gm BID for
Islet cell tumors are a rare cause of ectopic ACTH production and account for less than 1% of
Cushing's syndrome. In this case, repeat liver biopsy analysis at a specialized center with
immunohistochemical staining and in-situ hybridization tested negative for both ACTH and
CRH. It has thus been proposed that the tumor was the most likely source of the patient's
syndrome but our current methods of testing lacked the sensitivity required to confirm it. This
case demonstrates the difficulty in definitively diagnosing a source of ectopic ACTH production
and the need at times to simply treat based on the clinical evidence.
A History of Non-Specific Gastroenteritis: Not the Same Old Story
Ramji R. Rajendran, Zainal Hussain, MD and Marie N’Gomn, MD
University of Illinois College of Medicine
Urbana-Champaign, IL
One common clinical diagnosis is nonspecific gastroenteritis. Although most commonly
associated with infectious, neurological or drug induced etiologies, other diagnoses must also be
kept in mind in making a rapid and accurate diagnosis.
A 29-year-old man presented with nausea, vomiting, lightheadedness, generalized
weakness and mild abdominal pain of three days duration. He reported having a few such
episodes during the past four months. These episodes usually lasted a few days and went away
on their own. Previous therapies including dicyclomine and pantoprazole did not help. He has
history of hypothyroidism post 1131 iodide administered for Grave’s disease.
He denied any watery stools, tenesmus, bloating, flatulence, myalgia, or arthralgia.
Examination revealed blood pressure which was 118/56 three hours earlier, was at 70/50. The
patient appeared extremely weak and unable to stand for orthostatic blood pressure
measurement. He was treated with DSNS IV at 150 cc/hour.
Laboratory studies were significant for hyponatremia (125 mmol/L) high-normal
potassium (4.9 mmol/L) and a low bicarbonate level (18 mmol/l). all other test results were
pending. However ,the patient’s blood pressure continued to fall. Given the history of Grave’s
Disease, Addision’s disease was suspected. He was given dexamethasone 0.5 mg IV qid, IV
fluids 0.9 NS 150 mL/hr. A cosyntropin test was performed. Within an hour of treatment with
dexamethasone. The patient’s blood pressure normalized.
Young Woman with Headaches, Fatigue and Anemia
Joseph Wu
Finch University of Health Sciences/Chicago Medical School
North Chicago, IL
A26-year-old previously healthy Hispanic lady was seen in clinic complaining of a
headache and fatigue for the past two days. Previous medical history and review of symptoms
were noncontributory. Vital signs were normal and the physical examination was unremarkable
except for mild scleral icterus, pal conjunctiva and possible splenomegaly. Routine labs showed
the following: normal white count, Hgb of 6.3 g/dl, platelet count of 17,000 per mm3 with a
normal differential. Basic chemistries were normal and a routine urinalysis demonstrated a
“UTI”. The patient was subsequently admitted and initial hospital labs showed a moderately
elevated LDH of 812 IU/L, a total bilirubin of 2.5 mg/dL and AST of 48 U/L and AlT of 73 U/L,
all consistent with hemolytic anemia. Coombs test was negative. The peripheral smear showed
a few sperocytes per high powered field and a rare schistocyte. On the second day of
hospitalization, the patient began to act strangely, often forgetting what she had just said, and
answering questions inappropriately. Later that day, the patient started to spike high fevers of
102oF to 103oF and her mental status continued to deterorate. The remainder of this interesting
case will be discussed at the presentation.