Donnell Sierra S, Kraemer Megan K, Kadakia Suhagi M
Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA.
Department of Pediatrics, Division of Neonatology, Rush University Medical Center, Chicago, IL, USA.
Case Rep Perinat Med. 2023 May 5;12(1):20220033. doi: 10.1515/crpm-2022-0033. eCollection 2023 Jan.
To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature.
A four-day old, full-term, male infant born via uncomplicated vaginal delivery with a nursery course significant for failed hearing screen presented to an emergency department (ED) with respiratory distress and worsening stridor. He was transferred to a level III neonatal intensive care unit (NICU) for further evaluation and required intubation due to progressive hypercarbia. Laryngoscopy revealed left-sided unilateral vocal fold paralysis (VFP). He underwent further evaluation that included a normal MRI brain, neck and chest. Genetics was consulted with concern for dysmorphic features on physical exam. Following gene panel testing, VFP was attributed to known association with CHARGE syndrome. Airway edema was noted on laryngoscopy that prevented extubation until two months of age. Further features of CHARGE syndrome identified included colobomas, glaucoma, sensorineural hearing loss, and genital abnormalities. He was discharged in room air and following gastrostomy tube placement with otolaryngology follow up.
Although choanal abnormalities are classically associated with CHARGE syndrome, other upper airway anomalies such as VFP may be present. VFP is a rarely reported anomaly in association with CHARGE syndrome (Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815-20; Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49-54).
呈现以声带麻痹为特征的CHARGE综合征的罕见表现及诊断，声带麻痹是一种与之关联较少的先天性喉部异常。
一名4天大、足月的男婴，经顺产出生，在新生儿病房听力筛查未通过，因呼吸窘迫和喘鸣加重被送至急诊科。由于进行性高碳酸血症，他被转至三级新生儿重症监护病房（NICU）进行进一步评估并需要插管。喉镜检查显示左侧单侧声带麻痹（VFP）。他接受了进一步评估，包括头颅、颈部和胸部的MRI检查均正常。因体格检查发现有畸形特征，故咨询了遗传学专家。经过基因检测，VFP被归因于与CHARGE综合征的已知关联。喉镜检查发现气道水肿，导致直到两个月大时才得以拔管。CHARGE综合征的其他特征包括眼球缺损、青光眼、感音神经性听力损失和生殖器异常。他在可自主呼吸且放置胃造瘘管后出院，并安排了耳鼻喉科随访。
虽然后鼻孔闭锁异常通常与CHARGE综合征相关，但也可能存在其他上呼吸道异常，如VFP。VFP是与CHARGE综合征相关的一种罕见报道的异常情况（内藤洋、樋口真、小犬沼吾、荒牧真、高桥哲、小崎和树。CHARGE综合征新生儿和婴儿的上呼吸道梗阻。《美国医学遗传学杂志》2007年；143A：1815 - 20；摩根·D、贝利·M、菲尔普斯·P、贝尔曼·S、格雷斯·A、怀斯·R。CHARGE综合征中的耳鼻喉异常。《耳鼻喉科头颈外科档案》1993年；119：49 - 54）。
