What is a common presentation of Niemann-Pick disease in infants?

Niemann-Pick disease is a lysosomal storage disorder characterized by the accumulation of sphingomyelin due to a deficiency of the enzyme sphingomyelinase. In infants, the hallmark presentations include hepatosplenomegaly, which is the enlargement of the liver and spleen, as well as neurodegeneration. This results from the toxic buildup of sphingomyelin, which affects the nervous system and leads to severe developmental delays and neurological deterioration.

The presence of hepatosplenomegaly can often be one of the earliest observable signs in affected infants, typically within the first few months of life. The neurodegenerative aspect leads to symptoms such as hypotonia, loss of milestones, and can eventually progress to fatalities, usually in early childhood.

Other conditions, such as fatty liver disease or cirrhosis, may present with liver involvement but lack the specific combination of splenomegaly and significant neurodegeneration seen in Niemann-Pick disease. Structural heart defects are not characteristic of this disorder. Therefore, the unique combination of hepatosplenomegaly and neurodegeneration is what makes this option the most accurate representation of Niemann-Pick disease in infants.