Diagnostic Dilemma


A 2 years old girl presented with pallor without organomegaly. She had hyperpigmentation of fingers. Her hemogram showed pancytopenia with megaloblastic changes. Her Vitamin B12 levels were normal {825} and iron studies and hemoglobin electrophoresis were normal. Bone marrow examination showed hemophagocytes. However, serum Fibrinogen was normal {167}, Ferritin was slightly elevated {447} but triglycerides were very high {2064}. Her HDL cholesterol, cholesterol, LDL Cholesterol were normal. Her liver function tests showed increased SGPT {150 IU, L}. On follow up after 2 months, on and folic and B12 supplementation her triglycerides were normal {159}, her SGPT had decreased to 56 IU, L and hemogram was normal.

What was the cause of her hypertriglyceridemia_?
Expert Opinion :
Even though BM showed hemophagocytes, the child did not progress and just responded to B12 and folate supplements. There has been reports of pyruvate kinase deficiency with hypertriglyceridemia but not with megaloblastic anemia.
Answer Discussion :
mona kasem
10 years ago
saravanan pal
10 years ago

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