Diagnostic Dilemma

Which metabolic screening report to believe_?

A 4 months old boy born of non-consanguineous marriage presented with fever for 15 days, vomiting and loose motions for 8 days and passing clay colored stools for 2 days and altered sensorium for 1 day. On examination, he had large hepatomegaly. Milestones were normal for age. He was hospitalized and detected to have metabolic acidosis, coagulopathy and elevated liver enzymes in thousands with elevated bilirubin. Dengue NSI antigen was positive. He was treated with bicarbonate, N-Acetyl Cysteine and IV fluids to which he responded. An underlying metabolic disease was suspected and plasma Amino Acids was suggestive of elevated tyrosine and Methionine from one laboratory suggestive of tyrosinemia. Urinary succinyl acetone sent in another laboratory was normal ruling out tyrosinemia but further work up was suggestive of carbohydrate glycosylation defect. Molecular study was positive for Neimann Pick disease from a third laboratory. Ophthalmological examination did not show cherry red spot. On follow up, child is doing well, continuous to have large hepatomegaly and intolerance to fruits and sugar.

What is the likely diagnosis_?
Expert Opinion :
In view of intolerance to fruits and sugar, he was suspected to have fructose intolerance. His molecular studies finally proved the diagnosis of fructose intolerance. This case shows the fallacies in genetic testing where different labs gave different results and finally the diagnosis was suspected on clinical suspicion and required a proper molecular analysis.
Answer Discussion :
Federico Zaglia
5 years ago
sajan agarwal
As baby responded without NTBC and diet restriction so possibility of Tyrosinemia ruled out...Nieman pick disease type C can present with Acute liver failure..possibilty of HFI should also be kept if baby received honey or fruit jiuces before onset of symptoms..
5 years ago

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