脑内多发钙化1例报告及鉴别诊断(1)
脑内多发钙化1例报告及鉴别诊断,假性甲状旁腺功能减退,脑内钙化
[摘要] 假性甲状旁腺功能减退症是一种以X染色体多基因伴显性遗传为主同时伴有部分病例为常染色体显性或隐性遗传的罕见遗传性疾病,临床表现复杂多样,特别是合并脑内钙化并以神经系统表现为特征性表现的病例易误诊为其他疾病。本文报道1例因头外伤就诊患者,查头部CT示脑内多发钙化,后经内分泌科会诊后明确患者诊断,对该患者的检查结果、病情、诊疗过程进行了讨论,最后总结此类疾病的临床鉴别诊断。[关键词] 假性甲状旁腺功能减退;脑内钙化;鉴别诊断
[中图分类号] R596.1 [文献标识码] A [文章编号] 1673-7210(2018)08(c)-0148-04
[Abstract] Pseudohypoparathyroidism is a rare genetic disease, in which, the X chromosome has multiple genes with dominant heredity and is accompanied by autosomal dominant or recessive inheritance in some cases. The clinical manifestations are complex and diverse ......
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