Undiagnosed type IIIc Gaucher disease in a child with aortic and mitral valve calcification: perioperative complications after cardiac surgery.

摘要

GAUCHER DISEASE, the most common form of lysoso-mal storage disease, is caused by an inherited deficiency of the beta-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. 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. Patients with type II (infantile, acute, neurono-pathic) have severe neurologic abnormalities; it is usually fatal within 2 years. Patients with type HI (juvenile, subacute, neu-ronopathic) exhibit slowly progressive neurologic symptoms, including seizures and oculomotor apraxia that start in childhood or early adult life.