Abstract

GAUCHER DISEASE, the most common form of lysosomal storage disease, is caused by an inherited deficiency of the β-glucocerebrosidase enzyme. Pathology results from the accumulation of glucocerebroside in the reticuloendothelial system; Gaucher disease generally manifests as 1 of 3 clinical variants: type I, type II, and type III. 1 Jmoudiak M. Futerman A.H. Gaucher disease: Pathological mechanisms and modern management. Br J Haematol. 2005; 129: 178-188 Crossref PubMed Scopus (229) Google Scholar , 2 Chen M. Wang J. Gaucher disease: Review of the literature. Arch Pathol Lab Med. 2008; 132: 851-853 PubMed Google Scholar , 3 Grabowski G. Recent clinical progress in Gaucher disease. Curr Opin Pediatr. 2005; 17: 519-524 Crossref PubMed Scopus (56) Google Scholar Type I (adult, chronic, nonneuronopathic) is the most common and mildest form. Patients often present with hepatosplenomegaly and a combination of anemia, thrombocytopenia, and leucopenia. They may have skeletal disease including osteopenia and Erlenmeyer flask deformity of the distal femur. A small number of type I patients develop interstitial lung disease and pulmonary hypertension. 1 Jmoudiak M. Futerman A.H. Gaucher disease: Pathological mechanisms and modern management. Br J Haematol. 2005; 129: 178-188 Crossref PubMed Scopus (229) Google Scholar Patients with type II (infantile, acute, neuronopathic) have severe neurologic abnormalities; it is usually fatal within 2 years. Patients with type III (juvenile, subacute, neuronopathic) exhibit slowly progressive neurologic symptoms, including seizures and oculomotor apraxia that start in childhood or early adult life.

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