Familial basal ganglia calcifications visualized by computerized tomography

Abstract

Intracranial calcification can now be detected easily and precisely with the advent of computerized tomography [CT]. A familial case of striopallidal calcification with a rare hereditary pattern of autosomal dominancy is presented. None of the family members, aged from 8-62, displayed any neurological abnormality. All female family members had, bilaterally, short 4th metatarsals. Serum Ca and P 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%. No more than 10 cases of familial striopallidal calcification have been reported. Only by utilizing CT was the hereditary pattern determined accurately.