Which condition is characterized by hepatosplenomegaly, osteoporosis, and neurological symptoms?

Which condition is characterized by hepatosplenomegaly, osteoporosis, and neurological symptoms?

• A. Gaucher's disease
• B. Fabry disease
• C. Hunter syndrome
• D. Pompe disease

Answer: (A)

Gaucher's disease is characterized by a triad of symptoms including hepatosplenomegaly, osteoporosis, and neurological manifestations. This condition is a type of lysosomal storage disorder resulting from the deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in macrophages, transforming them into Gaucher cells. The hepatosplenomegaly occurs due to the infiltration of these Gaucher cells in the liver and spleen, leading to their enlargement. Osteoporosis is a significant complication in Gaucher's disease as the accumulation of lipid-laden macrophages can disrupt normal bone remodeling, leading to bone pain, fractures, and skeletal complications. Additionally, neurological symptoms can present, particularly in the more severe forms of the disease, affecting both fine motor skills and cognitive function. The presence of these three symptoms—hepatosplenomegaly, osteoporosis, and neurological issues—clearly identifies Gaucher's disease, distinguishing it from other lysosomal storage disorders mentioned in the options.

Gaucher's disease is characterized by a triad of symptoms including hepatosplenomegaly, osteoporosis, and neurological manifestations. This condition is a type of lysosomal storage disorder resulting from the deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in macrophages, transforming them into Gaucher cells.

The hepatosplenomegaly occurs due to the infiltration of these Gaucher cells in the liver and spleen, leading to their enlargement. Osteoporosis is a significant complication in Gaucher's disease as the accumulation of lipid-laden macrophages can disrupt normal bone remodeling, leading to bone pain, fractures, and skeletal complications. Additionally, neurological symptoms can present, particularly in the more severe forms of the disease, affecting both fine motor skills and cognitive function.

The presence of these three symptoms—hepatosplenomegaly, osteoporosis, and neurological issues—clearly identifies Gaucher's disease, distinguishing it from other lysosomal storage disorders mentioned in the options.