Solaiman Sumera Shaikh, Rifkin Daniel Scott, Rao Harish
Department of Pediatrics, Pennsylvania State University Children's Hospital, Hershey, PA.
Division of Pediatric Pulmonology, Pennsylvania State University Children's Hospital, Hershey, PA.
J Clin Sleep Med. 2016 Oct 15;12(10):1423-1424. doi: 10.5664/jcsm.6204.
This case involves a 13-month-old male with Hurler syndrome. Due to oxygen desaturations during sleep, this patient was referred for polysomnography, which revealed severe mixed sleep apnea (apnea-hypopnea index [AHI] 72 events/h). Because sleep apnea in patients with Hurler syndrome is frequently attributed to upper airway obstruction, he was referred to otolaryngology. Prior to his evaluation by otolaryngology, he underwent ventriculoperitoneal (VP) shunt placement, which had been scheduled due to hydrocephalus on brain magnetic resonance imaging (MRI). After VP shunt placement, his oxygen desaturations during sleep resolved. Repeat polysomnogram revealed mild sleep apnea (AHI 1.9). The etiology of his sleep apnea was likely his hydrocephalus. This is the first report of a patient with Hurler syndrome with sleep apnea which markedly improved with ventriculostomy and VP shunt placement. This highlights the importance of considering neurological etiologies for sleep apnea in Hurler's patients, despite their predisposition for airway obstruction.
该病例涉及一名13个月大患有黏多糖贮积症I型（Hurler综合征）的男性患儿。由于睡眠期间出现氧饱和度下降，该患者被转诊进行多导睡眠监测，结果显示为严重的混合性睡眠呼吸暂停（呼吸暂停低通气指数[AHI]为72次/小时）。由于黏多糖贮积症I型患者的睡眠呼吸暂停常归因于上呼吸道阻塞，他被转诊至耳鼻喉科。在接受耳鼻喉科评估之前，他接受了脑室腹腔（VP）分流术，这是由于脑部磁共振成像（MRI）显示脑积水而安排的手术。VP分流术后，他睡眠期间的氧饱和度下降情况得到缓解。重复多导睡眠监测显示为轻度睡眠呼吸暂停（AHI为1.9）。其睡眠呼吸暂停的病因可能是脑积水。这是首例关于黏多糖贮积症I型患者睡眠呼吸暂停经脑室造瘘术和VP分流术后明显改善的报告。这突出了在黏多糖贮积症患者中考虑睡眠呼吸暂停的神经病因的重要性，尽管他们易患气道阻塞。
