Which type of Gaucher Disease is characterized by neurologic symptoms and onset before age 2?

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Gaucher Disease is a lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebrosides within cells. It is classified into several types, each with distinct clinical features and symptom onset.

Type 2 Gaucher Disease, known as the acute neuronopathic form, is characterized by early onset, typically before age 2, and is marked by significant neurologic involvement. Patients with Type 2 often display severe neurological symptoms such as opisthotonos (abnormal posturing), seizures, and progressive neurological decline. The disease progresses rapidly, and most individuals have a limited lifespan, often not surviving beyond early childhood.

In contrast, Type 1 Gaucher Disease is non-neuronopathic, showing symptoms primarily related to the liver, spleen, and bone, while Type 3 exhibits a combination of visceral and neurologic symptoms but with a later onset than Type 2, usually in childhood or early adolescence. The perinatal lethal form, the most severe, is associated with significant organ failure and typically results in death before birth or shortly after.

Thus, Type 2's characterization by neurologic symptoms and early onset is what distinguishes it as the correct answer.

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