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首页> 外文期刊>Pediatric neurology >Infantile Ictal apneas in a child with Williams-Beuren syndrome
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Infantile Ictal apneas in a child with Williams-Beuren syndrome

机译：Williams-Beuren综合征患儿的婴幼儿肠壁呼吸暂停

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Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention.
机译：Williams-Beuren综合征是一种遗传病，很少与癫痫发作相关。 Williams-Beuren综合征和癫痫的少数几个描述的病例主要涉及婴儿痉挛和缺失，其扩展范围超出该疾病的常见缺失区域。我们介绍了一个5周大的儿童，患有发作性呼吸暂停和典型的Williams-Beuren综合征缺失的病例。诊断颇具挑战性，因为孩子患有通常与Williams-Beuren综合征相关的心脏，呼吸和胃肠道异常，也与发otic发作有关。发作间脑电图检查结果正常，这说明延长脑电图对评估可疑的发作性呼吸暂停通常必不可少。卡马西平可实现癫痫发作的自由。 Williams-Beuren综合征中发现猝死，这个病例引发了一个问题，其中一些病例可能与发作性呼吸暂停有关，是否可以通过适当的药物干预来预防。

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