以癫痫样发作为主要表现的甲状旁腺功能减退症的临床特征分析  

Analysis of clinical features of hypoparathyroidism with epileptiform as the main manifestation

作　　者：马海燕[1] 朱海涛[1] 杨露[1] 徐宏浩 张锐[1] MA Hai-yan;ZHU Hai-tao;YANG Lu(Department of Epilepsy Center,Brain Hospital Affiliated to Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学附属脑科医院功能神经外科癫痫中心,210029

出　　处：《临床神经病学杂志》2023年第3期165-169,共5页Journal of Clinical Neurology

基　　金：南京医科大学科技发展基金项目(NMUB2019102)。

摘　　要：目的 探讨以癫痫样发作为主要表现的甲状旁腺功能减退症(HP)患者的临床特征,以提高对甲状旁腺功能障碍疾病的认识。方法 对本院2016年8月至2020年6月诊断为“癫痫”的6例HP患者的临床资料进行分析和文献回顾。结果 6例均有癫痫样发作,其中1例以手足搐搦起病,另5例以癫痫样发作为首发症状,平均延迟诊断时间长达8年;癫痫样发作可表现为伴有意识改变的局灶性进展为双侧强直-阵挛发作、意识清楚的阵挛发作、意识清楚的强直发作以及未知起源的强直阵挛发作等多种发作类型,EEG、头颅CT均有较特异的改变。1例患者为明确GNAS基因新生错义突变(c. 692G> A/p. R231H)所致假性甲状旁腺功能减退症(PHP)伴有Albright遗传性骨营养不良症(AHO)畸形,并在明确病因诊断前行颈椎间盘减压手术治疗。1例初诊即明确HP诊断,仅予补钙、补充维生素D治疗后未再出现癫痫样发作;其余4例明确病因诊断后积极予补钙、补充维生素D治疗后几乎均未再出现癫痫样发作,1例患者伴有精神发育迟滞,1例患者留有精神障碍。结论 HP早期有效治疗可预防癫痫样发作的发生,减少患者并发症的发生。Objective To explore the clinical characteristics of hypoparathyroidism(HP)with epileptiform as the main manifestation in order to improve the understanding of hypoparathyroidism.Methods The clinical data of six inpatients with hypoparathyroidism who were diagnosed as“epilepsy”of the author hospital from August 2016 to June 2020 were retrospectively analyzed,and with a short review of literature.Results Six cases all had epileptiform seizures,among which one case started with tetany and five cases with epileptiform seizures as the first symptom,the average delay in diagnosis time was as long as eight years.Epileptiform seizures can be characterized by focal to bilateral tonic⁃clonic seizures with impaired awareness,focal clonic seizures with aware,focal atonic seizure with aware and bilateral atonic⁃clonic seizures with unknown onset,and the EEG,brain CT have more specific changes.One patient was diagnosed as pseudohypoparathyroidism(PHP)with Albright hereditary osteodystrophy(AHO)deformity caused by GNAS gene mutation(c.692G>A/p.R231H),and cervical decompression surgery was performed before etiological diagnosis was confirmed.One case was diagnosed as HP at first and no epileptiform seizures occurred after calcium and vitamin D supplement later.The residue four cases did not suffer from epileptic seizure attach after calcium and vitamin D supplement nearly.One patient had a mental retardation,and one patient had a mental disorder.Conclusion It is effective for preventing the occurrence of epileptiform seizure and reduce the incidence of complications by early confirmation and treatment.

关 键 词：癫痫 甲状旁腺功能减退症 假性甲状旁腺功能减退症 低钙血症 基因突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]