Department of Endocrinology, Zhongshan Hospital Xiamen University, Xiamen, China.
The School of Clinical Medicine, Fujian Medical University, Fuzhou, China.
J Int Med Res. 2023 Nov;51(11):3000605231215202. doi: 10.1177/03000605231215202.
We report a 15-year-old Chinese girl who presented with intermittent seizure episodes and had been misdiagnosed as having idiopathic epilepsy 5 years previously. Laboratory testing revealed hypocalcemia, hyperphosphatemia, and a high parathyroid hormone (PTH) concentration. She was subsequently shown to have pseudohypoparathyroidism type Ib (PHPIb) based on the results of methylation analysis of the gene, which showed a loss of methylation of the differentially methylated regions (DMR) of , , and ; and a gain of methylation of the DMR of the GNAS-NESP55 region. We adjusted the patient's medication by prescribing calcium and calcitriol supplements, and gradually reduced the doses of antiepileptic drugs, until they had been completely discontinued. As a result, the patient did not experience any further seizures or epileptiform symptoms; and had normal plasma calcium, phosphorus, and 25-hydroxyvitamin D concentrations and 24-hour urinary calcium excretion. In addition, her PTH concentration gradually normalized over 12 months, and no urinary stones were found on ultrasonographic examination. In conclusion, the clinical presentation of PHP is complex, and the condition is often misdiagnosed. The diagnosis and follow-up of the present patient have provide valuable insights that should contribute to informed clinical decision-making and the implementation of appropriate treatment strategies.
我们报告了一例 15 岁的中国女孩，她间歇性癫痫发作，5 年前被误诊为特发性癫痫。实验室检查显示低钙血症、高磷血症和甲状旁腺激素（PTH）浓度升高。随后根据 基因甲基化分析结果，发现其差异甲基化区域（DMR）的 、 和 缺失甲基化，GNAS-NESP55 区域的 DMR 获得甲基化，被诊断为 1b 型假性甲状旁腺功能减退症（PHPIb）。我们通过开补钙和骨化三醇补充剂来调整患者的药物，并逐渐减少抗癫痫药物的剂量，直到完全停用。结果，患者未再出现癫痫发作或癫痫样症状；血浆钙、磷和 25-羟维生素 D 浓度及 24 小时尿钙排泄正常。此外，她的 PTH 浓度在 12 个月内逐渐恢复正常，超声检查未发现尿路结石。总之，PH 临床表现复杂，常被误诊。本例患者的诊断和随访为临床决策提供了有价值的见解，并有助于实施适当的治疗策略。
