Pathophysiology

Gaucher's disease is an autosomal-recessive lipidosis caused by a deficiency of acid b-glucosidase.72 Because acid b-glucosidase hydrolyzes glucocerebroside in lysosomes to glucose and ceramide, Gaucher's disease is characterized by the lysosomal accumulation of glucocerebrosides (primarily glucosylceramide).

Clinical presentation

There are three subtypes of Gaucher's disease. Types II and III involve the CNS. Patients with type II die in infancy, but type III, the juvenile form, may present in infancy or childhood.

Glucocerebroside accumulates in cells of the liver, spleen, lymph nodes, and bone marrow, leading to organomegaly, lymphadenopathy, and skeletal pain. Neurologic signs include ataxic gait, cognitive dysfunction, and partial and generalized tonic-clonic seizures.

Evaluation

The diagnosis is confirmed by the presence of characteristic cells on bone marrow aspiration and the lack of acid b-glucosidase activity in cell culture.

Treatment

There is no known effective treatment for the neurologic involvement in type III Gaucher’s disease.

Adapted from: Schachter SC and Lopez MR. Metabolic disorders. In: Ettinger AB and Devinsky O, eds. Managing epilepsy and co-existing disorders. Boston: Butterworth-Heinemann; 2002;195-208. 
With permission from Elsevier (www.elsevier.com). 

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Reviewed By: 
Steven C. Schachter, MD
on: 
Wednesday, March 31, 2004