常染色体显性遗传性甲状旁腺功能减退症伴基底节外颅内钙化
Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia.
作者信息
McLeod D R, Hanley D A, McArthur R G
机构信息
Department of Pediatrics, Alberta Children's Hospital, Calgary, Canada.
出版信息
Am J Med Genet. 1989 Jan;32(1):32-5. doi: 10.1002/ajmg.1320320108.
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.
我们描述了一个常染色体显性遗传性甲状旁腺功能减退症的家族。三名受影响个体的放射免疫分析显示血清甲状旁腺激素检测不到。先证者出现癫痫发作，CT扫描显示双侧基底神经节钙化及额叶钙化。他同样受影响的母亲脑内钙化更为严重。后一种表现此前在常染色体显性遗传性甲状旁腺功能减退症中尚未有过描述。
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