Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia.
We describe a family with autosomal dominant hypoparathyroidism. The 3 affected individuals had no detectable serum parathyroid hormone on radioimmunoassay. The propositus presented with seizures and on CT scan had bilateral basal ganglion calcification and calcification in the frontal lobes. His similarly affected mother had even more intracerebral calcification. The latter manifestation has not been described previously in autosomal dominant hypoparathyroidism.
McLeod
D R
DR
Department of Pediatrics, Alberta Children's Hospital, Calgary, Canada.
Hanley
D A
DA
McArthur
R G
RG
D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002648:Child; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed