Liver and Biliary Pathology — MCQs

Q: A child presents with hepatosplenomegaly. Histological examination shows foam cells due to lipid accumulation. What is the most likely diagnosis?

Niemann –Pick disease. ***Niemann–Pick disease*** - Niemann–Pick disease, specifically type A and B, is caused by a **deficiency of sphingomyelinase**, leading to the accumulation of **sphingomyelin** within lysosomes. - The hallmark histological finding is the presence of **foam cells** (lipid-laden macrophages) in organs like the spleen, liver, and bone marrow, which correlates with the clinical finding of **hepatosplenomegaly**. *Gaucher disease* - Gaucher disease involves the accumulation of **glucocerebroside** due to a deficiency of the enzyme **glucocerebrosidase**. - Histologically, this presents as **Gaucher cells**, which are described as having the appearance of **wrinkled tissue paper** or crumpled silk, rather than foam cells. *Tay–Sachs disease* - Tay–Sachs disease is characterized by a deficiency in **hexosaminidase A**, leading to the accumulation of **GM2 gangliosides**. - It primarily affects the **central nervous system**, causing a **cherry-red spot** in the macula and neurodegeneration, but does **not** cause hepatosplenomegaly. *Fabry disease* - Fabry disease is an X-linked recessive disorder caused by a deficiency of **alpha-galactosidase A**, leading to the accumulation of **globotriaosylceramide**. - Clinical features typically include peripheral neuropathy, **angiokeratomas**, and hypohidrosis, generally without hepatosplenomegaly.

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