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首页> 外文期刊>Hong Kong Journal of Paediatrics >Incontinentia Pigmenti Associated with Seizures: A Case Report and Literature Review
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Incontinentia Pigmenti Associated with Seizures: A Case Report and Literature Review

机译：色素性尿失禁与癫痫相关：一例病例报告并文献复习

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Incontinentia pigmenti (IP) is a rare, multisystemic X-linked disorder. It mainly affects females, and rarely affected men survive. It is characterised by evolving abnormalities of the skin and other organs, including central nervous system (CNS) anomalies that may be associated with seizures, motor impairment, and intellectual insufficiency. We describe an 8-year-old girl who presented with skin manifestations of IP at 3 months and seizures from 1 year of age but without mention of IP. Subsequently, her skin lesions evolved typically and seizures became frequently. Brain magnetic resonance imaging revealed frontoparietal encephalomalacia. Genetic testing showed a c.520-523dupCAGG mutation on exon 5, which was found in some other Taiwanese patients with IP. Remarkably, the patient's overall development was normal, with no signs of intellectual insufficiency or deterioration, despite encephalomalacia. Our findings suggest that brain destruction of IP can develop even antenatally and seizure can attack after then. Nevertheless, further studies are needed for precise mechanism of CNS anomalies in IP.
机译：色素失禁（IP）是一种罕见的多系统性X连锁疾病。它主要影响女性，很少受到影响的男性存活。它的特征是皮肤和其他器官的异常演变，包括可能与癫痫发作，运动障碍和智力不足有关的中枢神经系统（CNS）异常。我们描述了一个8岁的女孩，她在3个月时出现IP皮肤表现，并从1岁开始癫痫发作，但没有提及IP。随后，她的皮肤病变通常发生发展，发作频繁。脑磁共振成像显示前额叶脑水肿。基因测试显示，在台湾其他一些IP患者中发现了外显子5的c.520-523dupCAGG突变。值得注意的是，尽管脑软化，患者的总体发育正常，没有智力不足或恶化的迹象。我们的发现表明，甚至在产前，大脑的IP破坏也可能发展，此后发作可能会发作。然而，需要进一步研究以明确IP中CNS异常的机制。

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