Which disease is characterized by infantile failure to thrive, hepatosplenomegaly, and neurodegeneration?

Which disease is characterized by infantile failure to thrive, hepatosplenomegaly, and neurodegeneration?

• A. Niemann-Pick disease
• B. Gaucher's disease
• C. Pompe disease
• D. Krabbe disease

Answer: (A)

The disease characterized by infantile failure to thrive, hepatosplenomegaly, and neurodegeneration is Niemann-Pick disease. This condition is a lipid storage disorder caused by a deficiency in sphingomyelinase, leading to the accumulation of sphingomyelin in various tissues, including the liver, spleen, and nervous system. Infantile onset of the disease typically presents with failure to thrive, where affected infants fail to gain weight or grow at a normal rate. Hepatosplenomegaly, or enlargement of the liver and spleen, is a key feature due to the accumulation of lipids in these organs. Additionally, neurodegeneration occurs as sphingomyelin accumulates in neural tissues, leading to progressive neurological decline, including motor and cognitive impairments. By distinguishing Niemann-Pick disease with its specific triad of symptoms, it becomes clear why it is the correct choice in this scenario. Other diseases listed do not present with this exact combination of symptoms. For example, Gaucher's disease also involves splenomegaly but typically lacks the same degree of neurodegeneration in its infantile form. Pompe disease primarily affects muscle tissue leading to a myopathy rather than hepatosplenomegaly and

The disease characterized by infantile failure to thrive, hepatosplenomegaly, and neurodegeneration is Niemann-Pick disease. This condition is a lipid storage disorder caused by a deficiency in sphingomyelinase, leading to the accumulation of sphingomyelin in various tissues, including the liver, spleen, and nervous system.

Infantile onset of the disease typically presents with failure to thrive, where affected infants fail to gain weight or grow at a normal rate. Hepatosplenomegaly, or enlargement of the liver and spleen, is a key feature due to the accumulation of lipids in these organs. Additionally, neurodegeneration occurs as sphingomyelin accumulates in neural tissues, leading to progressive neurological decline, including motor and cognitive impairments.

By distinguishing Niemann-Pick disease with its specific triad of symptoms, it becomes clear why it is the correct choice in this scenario. Other diseases listed do not present with this exact combination of symptoms. For example, Gaucher's disease also involves splenomegaly but typically lacks the same degree of neurodegeneration in its infantile form. Pompe disease primarily affects muscle tissue leading to a myopathy rather than hepatosplenomegaly and