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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Severe Central Sleep Apnea in Vici Syndrome
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Severe Central Sleep Apnea in Vici Syndrome

机译：维西综合症严重中枢性睡眠呼吸暂停

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Vici syndrome is a rare congenital multisystem disorder due to recessive mutations in the key autophagy regulator EPG5. Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement. Here we report on a 5-year-old girl who presented with global developmental delay, seizures, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and immunodeficiency with a low CD4 count and recurrent infections. EPG5 sequencing (prompted by suggestive clinical features) revealed a homozygous missense mutation, c.1007A>G (p.Gln336Arg). The patient was referred to our center for evaluation of nocturnal apnea. Overnight polysomnography showed severe central sleep apnea (CSA) with an overall apnea-hypopnea index of 100.5 events per hour of sleep (central apnea index of 97.5, mixed apnea index of 2, and obstructive hypopnea index of 1). The patient responded to bilevel positive airway pressure therapy with a backup rate with normalization of the apnea-hypopnea index and maintenance of oxygen saturation >90%. Despite successful control of the severe CSA, the patient was eventually started on nocturnal oxygen therapy due to excessive upper airway secretions and the high risk of possible aspiration with positive airway pressure therapy. This is the first report of EPG5-related Vici syndrome associated with CSA. We discuss the polysomnographic findings in our patient in the context of a brief literature review of the reported sleep abnormalities in Vici syndrome.
机译：由于主要自噬调节因子EPG5发生隐性突变，维奇综合征是一种罕见的先天性多系统疾病。维西综合症的特征是call体发育不全，色素沉着不足，免疫缺陷，白内障和心肌病，并伴有其他多系统异常。在这里，我们报道了一个5岁的女孩，该女孩表现出整体发育迟缓，癫痫发作，call体发育不全，白内障，白内障，感觉神经性听力减退，色素沉着和免疫缺陷，CD4计数低且反复感染。 EPG5测序（提示具有临床意义）提示纯合的错义突变，c.1007A> G（p.Gln336Arg）。该患者被转介到我们的夜间呼吸暂停评估中心。隔夜多导睡眠图检查显示严重的中枢性睡眠呼吸暂停（CSA），每小时睡眠总体呼吸暂停-呼吸不足指数为100.5事件（中心呼吸暂停指数为97.5，混合呼吸暂停指数为2，阻塞性呼吸不足指数为1）。该患者对双水平气道正压治疗反应良好，其后备率达到了呼吸暂停低通气指数正常化的水平，并且血氧饱和度维持在> 90％。尽管已成功控制了严重的CSA，但由于上呼吸道过多分泌物和气道正压疗法可能引起误吸的高风险，最终使患者开始进行夜间氧气治疗。这是与CSA相关的EPG5相关性Vici综合征的首次报道。在简短的文献综述中，我们对患者的多导睡眠图检查结果进行了讨论，该文献回顾了Vici综合征的睡眠异常。

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