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目的:探讨以抽搐为临床表现的甲状旁腺功能减低症的临床特点及治疗,提高对该病的认识,减少误诊。方法:收集1998年至2013年期间我院明确诊断的以抽搐为临床表现的甲状旁腺功能减低症病例共13例,回顾分析其临床表现、实验室检查、头颅影像学检查结果及治疗随访结果。结果:13例患儿急性期均给予10%葡萄糖酸钙静脉注射治疗,症状好转后给予钙剂及骨化三醇口服治疗。用药后所有患儿抽搐症状均明显好转,血钙升高。4例IPH患儿随访至今已达终身高,在正常范围。IPH患儿4例脱随访,1例颅内钙化明显抗癫痫治疗者有智力和认知水平下降,余8例智力和认知水平同正常儿。2例PHP患儿,1例男性脱随访,1例女性现13周岁,血钙维持在正常低限,无抽搐和手足麻木发生,但AHO畸形无改善,智力低下,有合并甲状腺和性腺功能减退。结论:小儿甲状旁腺功能减低症常以抽搐为临床表现就诊,易被误诊为癫痫和脑炎。对以抽搐临床表现就诊的患儿因检查血钙磷水平,以免漏诊。
Objective: To investigate the clinical features and treatment of hypoparathyroidism with convulsion as a clinical manifestation, to improve the understanding of the disease and reduce the misdiagnosis. Methods: A total of 13 cases of hypoparathyroidism diagnosed in our hospital from 1998 to 2013 were retrospectively analyzed. The clinical manifestations, laboratory tests, craniofacial imaging findings and treatment follow-up results were retrospectively analyzed . Results: Thirteen children were given intravenous injection of 10% calcium gluconate in the acute phase. After the symptoms improved, they were treated with calcium and calcitriol orally. After treatment, all children with convulsions were significantly improved symptoms, elevated serum calcium. 4 cases of IPH children have reached the final height of the follow-up, in the normal range. 4 cases of IPH children were followed up, 1 case of intracranial calcification obvious antiepileptic treatment had decreased intelligence and cognitive level, the remaining 8 cases of intelligence and cognitive level with normal children. Two cases of PHP children, 1 case of male off follow-up, 1 case of women are 13 years old, serum calcium remained in the normal low limit, no convulsions and numbness of hands and feet, but no improvement of AHO deformity, mental retardation, with thyroid and hypogonadism . Conclusion: Children with parathyroid dysfunction often convulsions as the clinical manifestations, easily misdiagnosed as epilepsy and encephalitis. On the clinical manifestations of convulsions due to check the blood calcium and phosphorus levels, so as not to miss a diagnosis.