Montenegro Ana Carla, Gelenske Thais, Carvalho Erico Higino, Bandeira Francisco, Sougey Everton
Universidade Federal de Pernambuco, Recife, PE, Brazil.
Arq Bras Endocrinol Metabol. 2011 Jun;55(5):349-52. doi: 10.1590/s0004-27302011000500009.
Pseudohypoparathyroidism (PHP) is characterized by resistance to the peripheral action of parathyroid hormone. We present a case of a seven-year-old girl who was admitted at the service of Instituto Materno Infantil de Pernambuco, IMIP, with motor episodes affecting the arms. Her calcium level was normal. Computed tomography showed calcifications in frontal lobes and basal ganglia. After six years: calcium was 5.5 mg/dL; phosphorus, 8.3 mg/dL and serum parathyroid hormone was 1,318 pg/mL. Pseudohypoparathyroidism diagnosis was considered. This is the first description of a case of pseudohypoparathyroidism without Albright's stigma, with cerebral calcification, and no calcium abnormalities at the initial clinical manifestation.
假性甲状旁腺功能减退症（PHP）的特征是对甲状旁腺激素的外周作用产生抵抗。我们报告一例七岁女孩，因手臂出现运动性发作而入住伯南布哥州妇幼保健院（IMIP）。她的血钙水平正常。计算机断层扫描显示额叶和基底神经节有钙化。六年后：血钙为5.5毫克/分升；血磷为8.3毫克/分升，血清甲状旁腺激素为1318皮克/毫升。考虑诊断为假性甲状旁腺功能减退症。这是首例无奥尔布赖特综合征体征、有脑钙化且初始临床表现时无钙异常的假性甲状旁腺功能减退症病例描述。
