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首页> 外文期刊>Seizure: the journal of the British Epilepsy Association >Hot water epilepsy and Mccune-Albright syndrome: a case report.
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Hot water epilepsy and Mccune-Albright syndrome: a case report.

机译：热水癫痫和Mccune-Albright综合征：一例报告。

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摘要

We observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune-Albright syndrome (MAS). This is a rare disease due to post-zygotic and somatic mutations of the Gs-alpha gene, that results in cellular mosaicism. Predominant features of MAS occur in the bony skeleton, the skin, the endocrine system, and, in atypical presentations, in other non-endocrine tissues. It is unknown whether or not an expression of the GNAS1 product in the brain does exist. Although the association of MAS with HWE in our patient may be merely casual, it brings up the possibility that the striking phenotypic variability of MAS might also include epilepsy.
机译：我们观察到一个15岁的白人男孩，患有罕见形式的反射性癫痫，即热水癫痫（HWE），与McCune-Albright综合征（MAS）相关。由于Gs-alpha基因的合子后和体细胞突变，这是一种罕见的疾病，导致细胞镶嵌。 MAS的主要特征出现在骨骼，皮肤，内分泌系统，以及在非典型表现中在其他非内分泌组织中。尚不清楚大脑中是否确实存在GNAS1产物的表达。尽管在我们的患者中MAS与HWE的关联可能只是偶然的，但它提出了MAS明显的表型变异也可能包括癫痫的可能性。

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