title: Familial basal ganglia calcifications visualized by computerized tomography.
abstract: Intracranial calcification can now be detected easily and precisely with the advent of computerized tomography. A familial case of striopallidal calcification with a rare hereditary pattern of autosomal dominancy is presented. None of the family members, aged from 8 to 62, displayed any neurological abnormality. All female family members had, bilaterally, short fourth metatarsals. Serum calcium and phosphorus values were not abnormal, although such physical findings are compatible with pseudohypoparathyroidism. The family tree suggested autosomal dominant heredity with a penetrance rate of 100%. Our survey revealed that no more than 10 cases of familial striopallidal calcification excluding ours have been reported to date. Only by utilizing CT was the hereditary pattern of our case determined accurately.
mesh_terms: D000293:Adolescent; D000328:Adult; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008684:Metatarsus / Q000002:abnormalities; D008875:Middle Aged; D010375:Pedigree; D014057:Tomography, X-Ray Computed