Diagnostic Dilemma


A 1 year old girl born of non consanguineous marriage presented with fever, cough and cold for 4 days and respiratory distress for one day. She had delayed milestones. Birth history was normal. On examination, height was 67 cms, weight was 7.5 kg with large hepatomegaly and drowsiness without focal neurological deficit. The child went into cardiorespiratory arrest but was revived but subsequently had repeated cardiorespiratory arrests in next 15 days and died. Investigations had revealed
• Hemoglobin = 10.7 gm, dl
• WBC count = 20,400, cumm {81 percent polymorphs, 19 percent lymphocytes}
• Platelets = 4,50,000, cumm
• Bilirubin of 0.6 mg, dl, SGOT of 366 IU, L, SGPT of 210 IU, L, total proteins of 5.3 gm, dl, Albumin of 3.1 gm, dl
• Prothrombin time = 12.9 sec, partial thromboplastin time = 33.9 sec.
• CPK = 3892 mg, dl
• Urine organic acids = Normal
• Echocardiography, ammonia, uric acid = Normal
• Fundus = Normal
• MRI = white matter demyelination
• USG Abdomen = Hepatomegaly

Post mortem liver biopsy or bone marrow biopsy could not be done as parents refused the same.

What is the diagnosis_?
Expert Opinion :
Yes, it probably looks like a storage disease in view of large hepatomegaly. Metabolic workup in form of urine organic acids is normal ruling our organic acidemia. It could still be a fatty acid oxidation defect but echocardiography is normal.
Answer Discussion :
congenital heart disease
7 years ago
Raymond mulenga
7 years ago

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