阿萨巴斯坎脑干发育不全综合征和呼吸道合胞病毒呼吸衰竭1例

Tanner Ellsworth, Nahid Hiermandi, Dian-lei Hu, L. Grimaldi
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摘要

阿萨巴斯卡脑干发育不全综合征(ABDS)是一种非致命的纯合子HOXA1突变,通常以中枢性通气不足、感音神经性耳聋、水平凝视性麻痹和发育迟缓为特征。在本报告中,我们报告了一例27个月大的纳瓦霍族女性,在呼吸道合胞病毒(RSV)细支气管炎的麻醉下多次拔管失败后,被新诊断为ABDS。她的病例意义重大,因为她没有感觉神经性听力损失,这是先前记录的病例的一个决定性特征,从而突显了诊断这种疾病的挑战。该病例扩大了纯合子HOXA1突变的不断增长的范围,并证明了在缺乏疾病关键特征的患者的重症监护环境中诊断ABDS的独特连接。
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A Case of Athabaskan Brainstem Dysgenesis Syndrome and RSV Respiratory Failure
Athabaskan Brainstem Dysgenesis Syndrome (ABDS) is a nonlethal, homozygous HOXA1 mutation typically marked by central hypoventilation, sensorineural deafness, horizontal gaze palsy, and developmental delay. In this report, we present a case of a 27-month-old Navajo female with a new diagnosis of ABDS after multiple failed attempts at extubation following anesthesia in the setting of respiratory syncytial virus (RSV) bronchiolitis. Her case is significant because she lacks sensorineural hearing loss, a defining feature of previously documented cases thereby underscoring the challenges of diagnosing this disease. This case expands the ever-growing spectrum of homozygous HOXA1 mutations and demonstrates unique junctions for diagnosis of ABDS in the critical care setting in patients lacking key features of the disease.
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