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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

1995; BMJ; Volume: 32; Issue: 9 Linguagem: Inglês

10.1136/jmg.32.9.740

1468-6244

Amparo Chabás, Bru Cormand, Daniel Grinberg, José M. Burguera, Susana Balcells, José Luís Merino, I Maté, José A. Sobrino, Roser Gonzàlez‐Duarte, Lluı̈sa Vilageliu,

Cellular transport and secretion

Three sisters suffering from an unusual form of Gaucher9s disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic and mitral valves. Neurological findings included ophthalmoplegia and saccadic eye movements in two patients, and tonic-clonic seizures in the third. The three patients died, two of them after having undergone aortic valve replacement. Tissue was obtained from one of the sibs and fibroblast and liver beta-glucocerebrosidase activity was reduced to 4% and 11% of mean normal values. Genotype analysis indicated that the patient was homozygous for the D409H mutation. It is tempting to relate the phenotype of severe cardiac involvement to the D409H/D409H genotype, although further cases will be needed before this association can be confirmed.