title: Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.
abstract: We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and deformed toes associated with glucosylceramide (glc-cer)-beta-glucosidase deficiency. The common manifestations of Gaucher disease were not evident. Supranuclear gaze palsies characteristic of type 3 were noted from early childhood, although the major signs were undeveloped until early adult life. Autopsy disclosed thickened leptomeninges with perivascular fibrosis, non-rheumatic calcified aortic and mitral stenosis with marked fibrosis, and mild infiltration of Gaucher cells in the reticuloendothelial organs. In contrast to the slight accumulation of glc-cer in the liver and spleen, the activity of glc-cer-beta-glucosidase was markedly decreased in the tissues, as much as in a patient with type 2 Gaucher disease. Common mutations were not found in the glucocerebrosidase gene.
authors.affiliation: First Department of Internal Medicine, Kumamoto University Medical School, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Owada
authors.forename: R
authors.initials: R
authors.lastname: Okamura
authors.forename: M
authors.initials: M
authors.lastname: Naito
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: S
authors.initials: S
authors.lastname: Araki
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D001921:Brain / Q000473:pathology; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003638:Deafness / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000172:deficiency*; D006349:Heart Valve Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006351:Heart Valves / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002479:Inclusion Bodies / Q000648:ultrastructure; D008099:Liver / Q000473:pathology; D008297:Male; D008578:Meninges / Q000473:pathology*; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology; D013154:Spleen / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D005962:Glucosylceramidase