FELLOW’S CHALLENGE

Presentation: A 13 year old white male presented to a local hospital with a six-month history of weight loss, low-grade fevers, fatigue and weakness. In the emergency room, he was found to be markedly anemic with a hemoglobin of 5 grams. He was admitted for further evaluation.

History:

· Past history was notable recurrent sores on his lips and inside his nose. He has had occasional episodes of bronchitis during the winter months. He was diagnosed to have a pneumonia 18 months ago. He has had poor dentition and gingivitis for years. He has a mild cognitive delay. He has had no previous hospitalizations.

· Review of systems was negative for rash, joint pain/swelling, chest pain, shortness of breath, visual complaints, Raynaud’s, headaches.

· Family history revealed an ill-defined rheumatologic disease in his mother. His younger brother is healthy. Father’s medical history was unknown

Inpatient Work-up:

· Labs: - ANA; + Coombs (+IgG Ab, - C₃); Retic count 12%; Platelets 180,000

WBC 11,500 with 86% segs, 2% bands, 10% lymphs

ESR > 140; CRP 15 (normal < 0.5)

normal urinalysis; SGPT 87; normal PT/PTT;

ID evaluation: negative blood cultures for bacteria/fungus and negative studies for

cryptococcosis and blastomycosis; HIV - negative

· Imaging studies:

CT of chest: small scattered nodules in both lungs and adenopathy

CT of abdomen: hepatomegaly with multiple liver nodules and a small amount of

peritoneal fluid.

Bone scan: Osteolytic lesions at pubic ramus, left hip and skull

· Pathology:

Bone marrow/biopsy: negative for malignant cells.

Biopsy of liver nodule: Granulomatous lesion (noncaseating). No organisms seen.

Cultures and AFB: negative

1. Which one of the following laboratory findings do you think will be present in this patient?

A. Positive anti-neutrophil cytoplasmic antibody (ANCA)

B. Depressed quantitative immunoglobulins

C. Elevated angiotensin converting enzyme (ACE) level

D. CARD15/NOD2 gene mutation

E. Histoplasma capsulatum antigen

2. Suspected diagnosis: ____________________

E-mail your answers to Linda Wagner at lww@uchicago.edu or fax to 773-363-0427. The fellow with the most correct answers will be awarded a CD of the ACR Slide Collection of pediatric rheumatology diseases. In the case of a tie, the winner will be determined by the order in which the response was received.  The answers to this challenge will be posted in the next issue of PROJ.