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 Neurol Scand. 1992 Oct;86(4):407-20. doi: 10.1111/j.1600-0404.1992.tb05109.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow / pathology
  • Brain / pathology
  • Corneal Opacity / diagnosis
  • Corneal Opacity / genetics*
  • Corneal Opacity / pathology
  • Deafness / diagnosis
  • Deafness / genetics*
  • Deafness / pathology
  • Female
  • Fibroblasts / pathology
  • Gaucher Disease / diagnosis
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / deficiency*
  • Heart Valve Diseases / diagnosis
  • Heart Valve Diseases / genetics*
  • Heart Valve Diseases / pathology
  • Heart Valves / pathology
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics*
  • Hydrocephalus / pathology
  • Inclusion Bodies / ultrastructure
  • Liver / pathology
  • Male
  • Meninges / pathology*
  • Microscopy, Electron
  • Mutation / genetics
  • Pedigree
  • Spinal Cord / pathology
  • Spleen / pathology
  • Syndrome
  • Toes / abnormalities*
  • Tomography, X-Ray Computed
  • Vacuoles / ultrastructure

Substances

  • Glucosylceramidase