脑内多发钙化1例报告及鉴别诊断

Multiple intracerebral calcification: case report and differential diagnosis

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。

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, especially cases with intracerebral calcification and characteristic manifestations of the nervous system are often misdiagnosed as other diseases. This article reports one patient with head trauma who checked the head CT showed multiple calcifications in the brain. After the consultation of Department of Endocrinology, the patient＇s diagnosis was clearly defined, and the patient＇s examination results, condition, and treatment process were discussed. Finally, the paper summarizes the clinical differential diagnosis of these diseases.