Diagnostic Dilemma

Persistent diarrhea with NBT test showing 3 percent function


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Question
Case Report: - 2½ month old boy born of non consanguineous marriage was referred from a private pediatrician for further management. He was admitted in a hospital 20 days back with complaints of watery diarrhea and lethargy for 2 days. He was admitted in PICU for grade 3 dehydration and shock. In the PICU, child had 3 episodes of focal convulsions for which he was given anticonvulsants to which seizures subsided. However the diarrhea continued to persist and subsequently the blood culture grew Klebsiella and he had thrombocytopenia and deranged prothrombin time {PT} and partial thromboplastin time {PTT}. He was also given 3 blood transfusions and fresh frozen plasma. However, his diarrhea continued to persist and was referred for further management. On examination, his vital parameters were normal and there was no evidence of dehydration. Systemic examination was normal. Investigations showed hemoglobin of 10 gmperdl, WBC = 26,700percumm {52percent polymorphs, 48percent lymphocytes} and platelet count of 1,30,000percumm. Stool examination showed 20-25 pus cellsperhpf with presence of yeast cells. His total proteins were 5.6 gmpercent with serum Albumin of 3.0 gmpercent USG abdomen showed mild hepatomegaly with fluid filled distended bowel loops and USG skull was normal. Blood gases were normal. His liver function, renal function tests and serum electrolytes were normal. PT and PTT were normal. Stool for reducing substance was negative. He was continued on IV antibiotics with cover for Clostridium difficile and Fluconazole was added. However diarrhea persisted. His stool culture grew candida. He was then treated with Inj Amphotericin B to which his loose motions partially responded. His serum immunoglobulins were normal and NBT test showed 3percent function.

Does he have Chronic granulomatous disease_?
Expert Opinion :
The authors have replied that currently they are treating the child as CGD. They hope to repeat the test in next 3 months.
Answer Discussion :
E
Eshraga Siddig
bubble
chronic granulamtous diseases
16 years ago
S
Sabri Sakrana
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repeat NBT, also IgG subclasses should be done, also Rhodamine dye reducing test may be helpful
16 years ago

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