Okada J, Takeuchi K, Ohkado M, Hoshina K
Acta Neurol Scand. 1981 Oct;64(4):273-9. doi: 10.1111/j.1600-0404.1981.tb04406.x.
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.
随着计算机断层扫描技术的出现,颅内钙化现在可以轻松且精确地检测出来。本文报告了一例具有罕见常染色体显性遗传模式的纹状体苍白球钙化家族病例。该家族成员年龄在8岁至62岁之间,均未表现出任何神经学异常。所有女性家族成员双侧第四跖骨短小。血清钙和磷值并无异常,尽管这些体格检查结果与假性甲状旁腺功能减退相符。家族谱系提示常染色体显性遗传,外显率为100%。我们的调查显示,迄今为止,除我们的病例外,报道的家族性纹状体苍白球钙化病例不超过10例。只有通过使用CT才能准确确定我们病例的遗传模式。