误诊为癫痫的假性甲状旁腺功能减退症2例报道并文献复习

目的:报道2例误诊为癫痫的不同临床表现的假性甲状旁腺功能减退症(PHP),并进行文献复习.方法:共收集到2例在门诊误诊为癫痫而收入院的PHP患者的临床资料,包括各自的临床表现、实验室检查、影像学检查以及治疗方法,查阅有关PHP文献,复习其发病机制及诊断分型,对2例患者的临床资料进行分析与讨论.结果:病例1有手足搐搦表现,低钙血症、高磷血症及甲状旁腺素(PTH)增高,颅内基底节对称钙化,诊断PHP;病例2有Al-bright遗传性骨营养不良症(AHO)畸形、软组织钙化、癫痫样大发作、低钙血症、高磷血症及PTH增高,TSH增高,FT4正常,基底节有典型的外八字型钙化,但无手足搐搦表现,诊断PHP合并亚临床甲状腺功能减退.2例患者在明确诊断后给予补钙、维生素D3及补镁后未再发作.PHP发病机制主要与Gsα蛋白活性下降和GNAS1基因变异有关.结论:PHP引起手足搐搦表现,以及PHP引起的继发性癫痫极易误诊为原发性癫痫,在临床接诊病人时须仔细询问病史,完善血钙等检查,积极寻找原发病因；PHP疾病关键要早期明确诊断,对治疗及预后大有益处.

Pseudohypoparathyroidism Misdiagnosed as Primary Epilepsy: A Case Report and Literatures Review

Objective: To report two cases of pseudohypoparathyroidism(PHP) misdiagnosed as primary epilepsy with different clinical manifestations,and to review literatures about PHP.Methods: Two outpatients with PHP were misdiagnosed as primary epilepsy.The clinical manifestations,laboratory tests,imaging examinations and treatment information were retrospectively studied.The literatures about PHP were reviewed including the pathogenesis and diagnostic classification.Results: The clinical manifestations of the first patient were tetany,hypocalcemia,hyperphosphatemia,elevated PTH levels,and symmetric calcification in intracranial basal ganglia;the second patient showed AHO malformation,soft tissue calcification,GTCS,hypocalcemia,hyperphosphatemia,elevated PTH,TSH resistance,typical symmetric calcification in intracranial basal ganglia,but no tetany was found.Tetany did not occurred in both patients after the treatment of calcium,vitamin D3 and magnesium.The pathogenesis of PHP is due to down-regulation of Gsα activity and GNAS gene mutations.Conclusion: Tetany and secondary epilepsy caused by PHP are easily misdiagnosed as primary epilepsy,so it’s important to be careful in inquiry before diagnosis,and serum calcium assay is recommended to detect the primary disease.Early diagnosis is critical for the treatment and prognosis of PHP patients.