Asymptomatic Familial Basal Ganglia Calcification with Autosomal Dominant Inheritance. A Family Report.

概要

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We report here a pedigree of basal ganglia calcification with autosomal dominant inheritance. Following a traffic accident, the proband, a seven-year-old boy, was incidentally noted by cranial computed tomography to have calcification of the bilateral basal ganglia. Six affected members spanning three generations, aged from 5 to 57 years, also had calcification in various degree. None of them had clinical symptoms. There were neither abnormal data nor any characteristic physical symptoms associated with parathyroid disorders. There was no consanguinity. Both sexes were affected and the sex ratio was 0.5. Male-to-male transmission was documented. These findings suggested an autosomal dominant trait. The clinico-radiological findings in our pedigree were different from those of the previously reported cases of familial basal ganglia calcification, that infants were affected and that clinical symptoms were absent in elderly patients. These facts suggest our pedigree is a new type of familial basal ganglia calcification with autosomal dominant inheritance.
一般社団法人日本小児神経学会の論文