What is a common symptom of Niemann-Pick disease?

Niemann-Pick disease is a lysosomal storage disorder characterized by the accumulation of sphingomyelin in various organs due to a deficiency of the enzyme sphingomyelinase. A hallmark feature of this condition is hepatosplenomegaly, which refers to the enlargement of the liver (hepatomegaly) and spleen (splenomegaly). This occurs early in life and is due to the accumulation of sphingomyelin within these organs, leading to their enlargement and dysfunction.

The presence of hepatosplenomegaly is not only a common clinical finding but also a key aspect in recognizing the condition in affected individuals. Children with Niemann-Pick disease often present with a range of symptoms including developmental delays, feeding difficulties, and characteristic physical findings, with hepatosplenomegaly being one of the most noticeable signs.

While other symptoms can be observed in Niemann-Pick disease, such as neurological manifestations and potential cherry-red spots in certain types of related conditions, none are as universally recognized or as immediate in clinical presentations as hepatosplenomegaly. This symptom aids in the initial identification and subsequent management of the disease.