PDF(Pubmed)
Abstract：
Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid hormone (PTH) resistance. Only few patients present with involuntary movements. We report the case of a 7-yr-old girl with PHP and involuntary movements triggered by running. Initially, she was suspected of having paroxysmal kinesigenic dyskinesia and was treated with carbamazepine (CBZ). Involuntary movements were reduced. However, 2 months post-treatment, she experienced convulsions during a fever. Blood tests and brain computed tomography revealed hypocalcemia, hyperphosphatemia, elevated intact PTH, and calcifications in the frontal cortex and basal ganglia. The patient showed no features of Albright\'s hereditary osteodystrophy. The involuntary movements disappeared after the discontinuation of CBZ and initiation of calcium and active vitamin D preparations. Methylation-specific multiplex ligation-dependent probe amplification for the GNAS region and microsatellite analysis of chromosome 20 led to the diagnosis of PHP1B caused by epimutation. In 15 reported cases, with or without intracranial calcification, PHP-associated involuntary movements disappeared or became less severe with treatment for hypocalcemia; in eight of 11 cases, they were triggered by exercise or movement. PHP-associated hypocalcemia can trigger exercise-induced involuntary movements owing to lowered serum ionized calcium levels. In such patients, early blood tests are vital for the differential diagnosis of PHP.
摘要：
假性甲状旁腺功能减退症（PHP）是一种罕见的以惊厥为特征的疾病，Tetany,和由甲状旁腺激素（PTH）抵抗引起的低钙血症引起的感觉异常。只有少数患者出现不自主运动。我们报告了一个7岁女孩的PHP和跑步引发的非自愿运动的案例。最初，她被怀疑患有阵发性运动障碍,并接受卡马西平(CBZ)治疗.非自愿运动减少了。然而,治疗后2个月，她在发烧时出现抽搐。血液检查和脑部计算机断层扫描显示低钙血症，高磷酸盐血症,升高的完整PTH，额叶皮质和基底节钙化.患者没有显示奥尔布赖特遗传性骨营养不良的特征。停用CBZ并开始使用钙和活性维生素D制剂后，不自主运动消失。针对GNAS区域的甲基化特异性多重连接依赖性探针扩增和20号染色体的微卫星分析导致了由表观突变引起的PHP1B的诊断。在15个报告的案例中，有或没有颅内钙化，PHP相关的不自主运动消失或随着低钙血症的治疗而变得不那么严重；在11例中的8例中，它们是由运动或运动引发的。由于血清离子钙水平降低，PHP相关的低钙血症可引发运动引起的不自主运动。在这样的病人中,早期血液检查对于PHP的鉴别诊断至关重要。
