Article
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.
Acta neurologica Scandinavica - 1 Oct 1992
Uyama E, Takahashi K, Owada M, Okamura R, Naito M, Tsuji S, Kawasaki S, Araki S
Abstract excerpt
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...
Topics
- Adult
- Bone Marrow
- Brain
- Corneal Opacity
- Deafness
- Female
- Fibroblasts
- Gaucher Disease
- Glucosylceramidase
- Heart Valve Diseases