Alabbad Fatimah A, Alali Roqaia, Alquraini Mohammed, Alghannam Zahra M, Alabdullah Mohammed B, AlMousa Haider H
Neonatology Department, Maternity and Children Hospital, Alahsa, SAU.
Paediatrics and Child Health Department, King Faisal University, Hofuf, SAU.
Cureus. 2023 Sep 30;15(9):e46279. doi: 10.7759/cureus.46279. eCollection 2023 Sep.
Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome. We present a preterm male delivered at 35 weeks gestation with an antenatal diagnosis of meningomyelocele. The patient's clinical examination revealed ruptured lumbosacral meningomyelocele, lower limb hypotonia, and hyporeflexia. The patient also displayed dysmorphic features, including microcephaly, a rounded face, low-set ears, and club feet. In addition, he is noted to have a high-pitched cry. Diagnosis of Chiari tonsil hernia type II was made by magnetic resonance imaging, and whole exome sequencing has confirmed CdCS. The spina bifida was surgically corrected, and the patient has since been cared for by a multidisciplinary team. The patient's short-term follow-up revealed a significant developmental delay. Few cases of CdCS associated with meningomyelocele have been reported. More evidence is needed to support a relevant association between CdCS and meningomyelocele.
猫叫综合征（CdCS）是一种罕见的遗传性疾病，其5号染色体短臂缺失。本报告旨在强调该综合征的一种罕见关联。我们报告一例妊娠35周早产的男性，产前诊断为脊髓脊膜膨出。患者的临床检查发现腰骶部脊髓脊膜膨出破裂、下肢张力减退和反射减弱。患者还表现出畸形特征，包括小头畸形、圆脸、低位耳和马蹄内翻足。此外，注意到他有高音调哭声。通过磁共振成像诊断为Ⅱ型 Chiari 扁桃体疝，全外显子测序已证实为猫叫综合征。脊柱裂已通过手术矫正，此后患者由多学科团队护理。患者的短期随访显示有明显的发育迟缓。很少有猫叫综合征与脊髓脊膜膨出相关的病例报道。需要更多证据来支持猫叫综合征与脊髓脊膜膨出之间的相关关联。
