Extensive cerebral calcification and retinal changes in pseudohypoparathyroidism.
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.
Ellie
E
E
Département de Neurologie, Hôpital du Haut-Lévêque, Pessac, France.
Julien
J
J
Ferrer
X
X
Riss
I
I
Durquety
M C
MC
D000328:Adult; D001927:Brain Diseases / Q000503:physiopathology*; D002114:Calcinosis / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000503:physiopathology; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000235:genetics / Q000503:physiopathology*; D012164:Retinal Diseases / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed