Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report.
case report
cri-du-chat
meningomyelocele
neonatal
spina bifida
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
accepted:
29
09
2023
medline:
1
11
2023
pubmed:
1
11
2023
entrez:
1
11
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37908952
doi: 10.7759/cureus.46279
pmc: PMC10614104
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e46279Informations de copyright
Copyright © 2023, Alabbad et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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