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[常染色体显性遗传的无症状家族性基底节钙化:一例家族报告]

[Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report].

作者信息

Yamada N, Hayashi T

机构信息

Department of Pediatrics, Ube Kyoritsu Hospital, Ube, Yamaguchi.

出版信息

No To Hattatsu. 2000 Nov;32(6):515-9.

Abstract

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.

摘要

我们在此报告一个具有常染色体显性遗传的基底节钙化家系。在一次交通事故后,先证者,一名7岁男孩,经头颅计算机断层扫描偶然发现双侧基底节钙化。三代中6名受影响成员,年龄从5岁到57岁,也有不同程度的钙化。他们均无临床症状。既没有与甲状旁腺疾病相关的异常数据,也没有任何特征性体征。无近亲结婚。男女均受影响,性别比为0.5。记录到男性向男性的传递。这些发现提示为常染色体显性性状。我们家系的临床放射学表现与先前报道的家族性基底节钙化病例不同,先前报道的病例是婴儿受影响,老年患者无临床症状。这些事实表明我们的家系是一种新型的具有常染色体显性遗传的家族性基底节钙化。

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