两例特发性甲状旁腺功能低下合并癫痫的临床表现及远期随访

The clinical manifestation and long-term follow-up of two children with idiopathic hypoparathyroidism combined with epilepsy

目的探讨特发性甲状旁腺功能低下患儿合并癫痫的临床表现及与远期随访。方法收集2009年4月于西安交通大学附属第二医院就诊的两例特发性甲状旁腺功能低下合并癫痫患儿,随访至2018年4月。详细记录临床资料,包括病史、详尽的查体及辅助检查,并定期进行随访。两例患儿随访时间均超过9年。特发性甲状旁腺功能低下的诊断主要依据是典型的病史、低钙血症、高磷血症、低甲旁腺素浓度,头颅断层扫描(CT)显示基底节、皮髓质交界处钙化灶。结果经过9年的随访,两例患儿均在血钙、血磷正常的情况下,因为抗癫痫药物(AEDs)的使用减量而再次出现惊厥复发。行24 h脑电图监测发现全导在清醒或睡眠期可见多棘慢波发放,故继续口服AEDs。结论特发性甲状旁腺功能低下患儿可合并癫痫,机制可能和颅内的异常钙化灶相关。治疗上除了钙剂和活性维生素D以外,AEDs应选择对钙磷代谢及肝酶诱导作用小的药物。

Objectives To explore if epilepsy and idiopathic hypoparathyroidism could be coexisted in one patient. Methods Collected clinical data of two epilepsy children with idiopathic hypoparathyroidism from the Second Affiliated Hospital of Xi＇an Jiaotong University in January 2009. We record the clinical material in detail. The follow-up of two cases is oven 9 years. The diagnosis of idiopathic hypothyroidism is mainly based on the typical history,hypocalcemia, hyperphosphatemia, and hypoparathyroid hormone concentrations. The CT scans show calcifications at the junction of the basal ganglia and cortex and medulla. Results During 9 years of follow-up, both cases had recurred of convulsions due to reduced use of anti-epileptic drugs under conditions of normal serum calcium and phosphorus levels.Spontaneous slow wave can be found during 24 hours of EEG monitoring in the awake or sleep period. They continue oral antiepileptic drugs. Conclutions We suggested that children with idiopathic hypoparathyroidism can be combined with epilepsy. And the mechanism may be related to abnormal intracranial calcification. In addition to calcium and active vitamin D, anti-epileptic drugs which have little effect on metabolism of calcium and phosphorus should be selected for treatment.