假性甲状旁腺功能减退症的神经系统表现的临床分析

目的总结以神经系统表现为特征的假性甲状旁腺功能减退症的临床特点和诊治原则。方法回顾性分析6例以神经系统表现为特征的假性甲状旁腺功能减退症的临床资料。结果假性甲状旁腺功能减退症是一种罕见的遗传性疾病,有家族发病倾向,以低钙、高磷、PTH正常或偏高为主要特征,可伴有发育异常、智力发育迟缓等,部分病例有头痛、癫痫、手足抽搐、神经精神症状。诊断上需行血钙、血磷、甲状旁腺激素检查、头颅CT及假性甲状旁腺功能减退症的刺激试验以确诊。治疗上以补充钙剂和维生素D为主。结论以神经系统表现为特征的假性甲状旁腺功能减退症临床罕见,极易误诊,应积极结合临床早期诊断和治疗。

Clinical Analysis of Pseudohypoparathyroidism Manifestations of Nervous System Disease

Objective To summarize the clinical characteristics and treatment principle of ueurologic manifestations of pseudohypopara- thyroidism. Methods Retrospective analysis the clinical data of 6 cases of pseudo hypoparathyroidism. Results pseudohypoparathyroidism is a rare genetic disorder, family incidence tendency, with low calcium, high phosphorus, PTH normal or high as the main feature, can be associated with developmental abnormalities, mental retardation, some patients have headache, epilepsy, tetany, neuropsychiatric symptoms. It diagnosed the disease by calcium, serum phosphorus, parathyroid hormone examination, brain CT and pseudohypoparathyroidism stimula- tion test. Treatment with calcium and vitamin D supplements based. Conclusion The neurologic manifestations of pseudohypoparathyroidism is rare in clinic and is easy to be misdiagnosed, it should be early diagnosis and treatment combing with clinical manifestation.