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[迟发性癫痫作为假性甲状旁腺功能减退症的首发症状]

[Late onset epilepsy as the first symptom of pseudohypoparathyroidism].

作者信息

Villarreal-Núñez F, Adames-Quintero A E, Noriega L

机构信息

Departamento de Medicina Interna, Hospital Regional Doctor Rafael Hernández, Caja de Seguro Social, David, Chiriquí, Panama.

出版信息

Rev Neurol. 2005;41(3):155-8.

Abstract

INTRODUCTION

The late onset epilepsy is defined like that start in the adult life after the 25 years old. The diagnostic assessment of the late onset epilepsy forces to discard, in the absence of the principal causes like stroke, tumors and trauma to the metabolic cause like plausible. The persistent hypocalcemia, apart of its acute repercussions, produces severe neurologic consequences.

CASE REPORT

Feminine patient of 61 years old, that assists with a tonic clonic generalized seizure and tetany facts in the physical exam (Chvostek and Trousseau), round facies, obesity and metacarpals abnormalities. The hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone (with normal levels of cAM in urine after stimulation with PTH) triad outline the pseudohypoparathyroidism.

CONCLUSIONS

Consider by the clinical history, biochemical results and clinical findings consistent with Albright hereditary osteodystrophy a pseudohypoparathyroidism type Ia in this patient; is the more common form of this disorders and have a dominant pattern of inheritance, is produced by a detectable mutation in the stimulatory Gs alpha, one protein of the adenylil cyclase complex (GNAS1) that is traduced in a inefficacy of the PTH renal receptor. The main goals of treatment are reduce and maintain the serum calcium and PTH levels, respectively.

摘要

引言

迟发性癫痫定义为25岁以后成年期发病。迟发性癫痫的诊断评估在排除中风、肿瘤和创伤等主要病因后,需考虑代谢性病因是否合理。持续性低钙血症除了有急性影响外,还会产生严重的神经后果。

病例报告

一名61岁女性患者,因全身性强直阵挛发作就诊,体格检查有手足搐搦(Chvostek征和Trousseau征)、圆脸、肥胖及掌骨异常。低钙血症、高磷血症及对甲状旁腺激素抵抗(甲状旁腺激素刺激后尿中环磷酸腺苷水平正常)三联征提示假性甲状旁腺功能减退。

结论

根据临床病史、生化结果及与奥尔布赖特遗传性骨营养不良相符的临床表现,考虑该患者为Ia型假性甲状旁腺功能减退;这是该疾病最常见的形式,呈显性遗传模式,由腺苷酸环化酶复合物的一种蛋白质刺激性Gsα(GNAS1)中的可检测突变引起,导致甲状旁腺激素肾受体功能无效。治疗的主要目标分别是降低并维持血清钙和甲状旁腺激素水平。

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