Del Monte Patrizia, Cuttica Carla Micaela, Marugo Alessandro, Foppiani Luca, Audenino Daniela, Godowicz Tomasz Tadeusz, Elli Francesca Marta, Mantovani Giovanna, Di Maria Emilio
Endocrine Unit, Galliera Hospital, Genoa, Italy.
Internal Medicine Unit, Galliera Hospital, Genoa, Italy.
Case Rep Endocrinol. 2019 Jan 9;2019:8456239. doi: 10.1155/2019/8456239. eCollection 2019.
Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Clinical history revealed carpo-pedal spasm since the age of 30 years, cognitive impairment, hypothyroidism since early adulthood, and menopause at 30 years. She was taking oral calcium and cholecalciferol for chronic hypocalcemia. Physical features suggested Albright's osteodystrophy. Blood calcium was confirmed low, with increased parathyroid hormone, moderate 25OH-vitamin D deficiency, and normal creatinine. Brain CT scan revealed calcifications of the basal ganglia, cortical and subcortical white matter, and cerebellum. Therapy was switched to oral calcitriol, with normalization of calcium levels; levetiracetam was started and no further seizures occurred. The clinical diagnosis of PHP1A was confirmed by molecular analysis, which demonstrated the heterozygous c.568_571del mutation of the gene. Our report illustrates the natural history of a patient with PHP1A, which went undiagnosed until the age of 64 years, with multi-hormonal resistance and clinical sequelae evolving throughout life, and underlines the importance of diagnosing this rare disease, which has a great impact on patients and their family life.
1A型假性甲状旁腺功能减退症（PHP1A）通常在儿童期或成年早期被诊断出来。我们描述了一名64岁女性的病例，她因反复出现意识丧失和癫痫发作而入住神经科。血糖和心电图正常，但发现有低钙血症。临床病史显示，她自30岁起就出现手足痉挛，有认知障碍，成年早期就患有甲状腺功能减退症，30岁时绝经。她因慢性低钙血症一直在服用口服钙剂和胆钙化醇。体格检查特征提示为奥尔布赖特骨营养不良。血液检查证实血钙偏低，甲状旁腺激素升高，25羟维生素D中度缺乏，肌酐正常。脑部CT扫描显示基底神经节、皮质和皮质下白质以及小脑有钙化。治疗改为口服骨化三醇，血钙水平恢复正常；开始使用左乙拉西坦，此后未再发生癫痫发作。分子分析证实了PHP1A的临床诊断，该分析显示基因存在杂合性c.568_571del突变。我们的报告阐述了一名PHP1A患者的自然病史，该患者直到64岁才被诊断出来，其多激素抵抗和临床后遗症在一生中不断演变，并强调了诊断这种罕见疾病的重要性，因为它对患者及其家庭生活有很大影响。
