Perinatology.  2018 Mar;29(1):48-51. 10.14734/PN.2018.29.1.48.

Cri-du-chat Syndrome with Dysphagia

• Hong YC
• Choi EJ
• Ho YH
• Lee OK
• Kim YS

• KMID: 2409112
• DOI: http://doi.org/10.14734/PN.2018.29.1.48

Abstract

The cri-du-chat syndrome is a chromosomal disease caused by a deletion on the short arm of chromosome 5. Clinical features are characteristic facial features and high pitched cat like cry, various malformations, complications, dysphagia, and feeding difficulties. There have been several reports of cri-du-chat syndrome in Korea, but no case reports about the patients with cri-du-chat syndrome with dysphagia who underwent percutaneous endoscopic gastroenterotomy (PEG) have been reported. Therefore, we report a case of cri-du-chat syndrome with sustained dysphagia who underwent PEG for long term enteral nutrition with a review of the literatures.

Keyword

Cri-du-chat syndrome; Dysphagia; Gastroenterostomy

MeSH Terms

Animals
Arm
Cats
Chromosomes, Human, Pair 5
Cri-du-Chat Syndrome*
Deglutition Disorders*
Enteral Nutrition
Gastroenterostomy
Humans
Korea

Figure

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  Fig. 1 (A, B) Facial features of the patients show prominent metopic suture, round face, epicanthal fold, hypertelorism, wide and depressed nasal bridge.

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  Fig. 2 Karyotype of the patient: The arrow points to chromosome 5 with the partial deletion in the short arm: 46, XY, del(5) (p14).

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  Fig. 3 Video fluoro swallowing study image shows aspiration. The aspirate is denoted by arrow.

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