Extensive cerebral calcification and retinal changes in pseudohypoparathyroidism

J Neurol. 1989 Oct;236(7):432-4. doi: 10.1007/BF00314907.

Abstract

The case of a 41-year-old woman with cerebral calcification of a rather unusual extent is reported. This condition was associated with mental deficiency, pseudohypoparathyroidism and Albright's hereditary osteodystrophy. Four years later hypothyroidism was diagnosed. Visual impairment and electroretinogram abnormality suggested a retinopathy involving mostly rods. Despite their rarity, pseudohypoparathyroidism and Albright's hereditary osteodystrophy are of major interest, since they represent the only human disease states in which G protein function has been found to be disrupted. The overall clinical picture was strongly suggestive of a genetic deficiency of a guanine nucleotide-binding protein, termed Gs. The putative involvement of another G protein, contained in rods and cones, transducin, in the pathogenesis of the retinopathy is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases / physiopathology*
  • Calcinosis / physiopathology*
  • Electroretinography
  • Female
  • Humans
  • Hypothyroidism / physiopathology
  • Phenotype
  • Pseudohypoparathyroidism / genetics
  • Pseudohypoparathyroidism / physiopathology*
  • Retinal Diseases / physiopathology*
  • Tomography, X-Ray Computed