Hepatosplenomegaly, mental retardation, and "bubbly" macrophages are symptoms of which of the following diseases?

Hepatosplenomegaly, mental retardation, and "bubbly" macrophages are symptoms of which of the following diseases?

• A. Fabry's Disease
• B. Niemann-Pick Disease
• C. Krabbe's Disease
• D. Metachromatic leukodystrophy

Answer: (B)

Niemann-Pick Disease is characterized by a triad of symptoms, including hepatosplenomegaly, developmental delay (often referred to as mental retardation), and the presence of "bubbly" macrophages, which are macrophages laden with lipids. This condition is caused by a deficiency of sphingomyelinase, leading to the accumulation of sphingomyelin in cells. The "bubbly" appearance of the macrophages is a distinctive histological finding, as the lipid accumulation gives them a foamy or vacuolated appearance. This accumulation primarily affects the liver and spleen, resulting in hepatosplenomegaly. Additionally, the neurological impairment is due to the accumulation of sphingomyelin in nervous tissue, which negatively impacts cognitive development. In contrast, other lysosomal storage diseases listed have different clinical presentations. For instance, Fabry's disease typically involves skin findings, renal problems, and cardiomyopathy rather than hepatosplenomegaly and the specific type of macrophage appearance seen in Niemann-Pick. Krabbe's disease leads to severe neurological deficits due to galactocerebroside accumulation but does not present with hepatosplenomegaly. Lastly, metachromatic

Niemann-Pick Disease is characterized by a triad of symptoms, including hepatosplenomegaly, developmental delay (often referred to as mental retardation), and the presence of "bubbly" macrophages, which are macrophages laden with lipids. This condition is caused by a deficiency of sphingomyelinase, leading to the accumulation of sphingomyelin in cells.

The "bubbly" appearance of the macrophages is a distinctive histological finding, as the lipid accumulation gives them a foamy or vacuolated appearance. This accumulation primarily affects the liver and spleen, resulting in hepatosplenomegaly. Additionally, the neurological impairment is due to the accumulation of sphingomyelin in nervous tissue, which negatively impacts cognitive development.

In contrast, other lysosomal storage diseases listed have different clinical presentations. For instance, Fabry's disease typically involves skin findings, renal problems, and cardiomyopathy rather than hepatosplenomegaly and the specific type of macrophage appearance seen in Niemann-Pick. Krabbe's disease leads to severe neurological deficits due to galactocerebroside accumulation but does not present with hepatosplenomegaly. Lastly, metachromatic