Teixeira Sara Reis, Cerron-Vela Carmen, Khalek Nahla, Wright Renee, Whitehead Matthew T
From the Department of Radiology (S.R.T., C.C.-V, M.T.W.), Division of Neuroradiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Perelman School of Medicine at the University of Pennsylvania (S.R.T., N.K., M.T.W.), Philadelphia, Pennsylvania.
AJNR Am J Neuroradiol. 2025 May 2;46(5):1022-1028. doi: 10.3174/ajnr.A8609.
CHARGE is a syndrome that affects the brain, eyes, ears, heart, face, and genitourinary system. Prenatal diagnosis could optimize counseling, delivery planning, and therapeutic interventions; however, reports of associated fetal neuroimaging features are scarce. While some findings are nonspecific, olfactory, inner ear, and skull base anomalies are commonly present and may be observable at the time of fetal imaging. We sought to determine the scope of prenatal CNS MRI findings in CHARGE syndrome with emphasis on findings not included in the diagnostic criteria for CHARGE syndrome, such as coronal clival cleft.
Retrospective review of fetal +/- postnatal neuroimaging from patients with genetic diagnosis of CHARGE syndrome was conducted. Brain, ear, eye, face, and skull base bone abnormalities were documented. Descriptive statistics were employed to characterize the findings.
Eighteen fetal-maternal dyads were included. Median gestational age at time of prenatal MRI was 26.25 weeks. Thirteen (72%) subjects were born alive, of which 10 (55.6%) were males. One died on the first day of life (5.6%) and 4/18 (22.2%) underwent termination of pregnancy. Twelve (66.7%) had postnatal brain MRI and/or temporal bone CT. On prenatal MRI, coronal clival cleft was seen in 72% of the cases and confirmed in all patients with postnatal imaging. Inner ear dysplasia was universally seen in all prenatal MRI, except for 1 case, in which this was not evaluable, and confirmed in all cases postnatally. On prenatal imaging, olfactory apparatus hypoplasia/absence was detected in 83% of the cases, followed by globe dysmorphia and/or colobomas in 44% of the cases, atresia of choanae (39%), facial clefts (22%), and cerebellar malformation (16.7%). Of the 10 cases with postnatal brain MRI available, 4 (40%) demonstrated cerebellar gray matter heterotopia.
The most common fetal neuroimaging findings supporting the diagnosis of CHARGE syndrome are olfactory deficiency and inner ear dysplasia. Coronal clival clefts are often present and are frequently visible on prenatal MR imaging. The presence of a clival coronal cleft should raise the possibility of CHARGE syndrome, particularly when associated with other known cardinal findings, such as cerebellar dysgenesis, olfactory apparatus deficiency, and inner ear dysplasia.
CHARGE综合征是一种累及脑、眼、耳、心脏、面部及泌尿生殖系统的综合征。产前诊断有助于优化咨询、分娩计划及治疗干预；然而，关于其相关胎儿神经影像学特征的报道较少。虽然有些发现不具有特异性，但嗅觉、内耳及颅底异常较为常见，且可能在胎儿影像学检查时被观察到。我们旨在确定CHARGE综合征产前中枢神经系统磁共振成像（MRI）的表现范围，重点关注CHARGE综合征诊断标准中未包含的表现，如冠状位斜坡裂。
对经基因诊断为CHARGE综合征患者的胎儿及产后神经影像学资料进行回顾性分析。记录脑、耳、眼、面部及颅底骨异常情况。采用描述性统计方法对这些发现进行特征描述。
纳入18对胎儿-母亲组合。产前MRI检查时的中位孕周为26.25周（译者注：此处原文单位有误，根据语境推测为“周”）。13例（72%）婴儿存活，其中10例（55.6%）为男性。1例（5.6%）出生第一天死亡，4/18例（22.2%）接受了妊娠终止。12例（66.7%）进行了产后脑MRI和/或颞骨CT检查。产前MRI检查时，72%的病例可见冠状位斜坡裂，所有产后影像学检查的患者均得以证实。除1例无法评估外，所有产前MRI检查均发现内耳发育异常，产后所有病例均得以证实。产前影像学检查时，83%的病例检测到嗅器发育不全/缺失，44%的病例出现眼球畸形和/或缺损，39%的病例出现后鼻孔闭锁，22%的病例出现面部裂隙，16.7%的病例出现小脑畸形。在可获得产后脑MRI检查结果的10例病例中，4例（40%）显示小脑灰质异位。
支持CHARGE综合征诊断的最常见胎儿神经影像学表现为嗅觉缺失和内耳发育异常。冠状位斜坡裂常存在，且在产前MRI检查中常可见。斜坡冠状裂的出现应提高CHARGE综合征的可能性，特别是当与其他已知的主要表现相关时，如小脑发育不全、嗅器缺陷和内耳发育异常。
