Cri-du-chat Syndrome with Dysphagia

Yu Chan Hong; Eom Ji Choi; Yo Han Ho; Oh Kyung Lee; Young Suk Kim

doi:10.14734/PN.2018.29.1.48

Journal List > Perinatology > v.29(1) > 1071381

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Hong, Choi, Ho, Lee, and Kim: Cri-du-chat Syndrome with Dysphagia

Case Report

Perinatology 2018; 29(1): 48-51.

Published online: 31 March 2018

DOI: https://doi.org/10.14734/PN.2018.29.1.48

Cri-du-chat Syndrome with Dysphagia

Yu Chan Hong, MD¹, Eom Ji Choi, MD¹, Yo Han Ho, MD¹, Oh Kyung Lee, MD¹, Young Suk Kim, MD²

¹Department of Pediatrics, Presbyterian Medical Center, Jeonju, Korea.

²Department of Laboratory Medicine, Presbyterian Medical Center, Jeonju, Korea.

Correspondence to Yo Han Ho, MD. Department of Pediatrics, Presbyterian Medical Center, 365 Seowon-ro, Wansan-gu, Jeonju 54987, Korea. Tel: +82-63-230-1390, Fax: +82-63-230-1396, soriyh@nate.com

Received 11 August 2017 Revised 19 September 2017 Accepted 16 October 2017

The Korean Society of Perinatology

(open-access, http://creativecommons.org/licenses/by-nc/4.0/):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Cri-du-chat syndrome, Dysphagia, Gastroenterostomy

Figures and Tables

Fig. 1

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

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).

Fig. 3

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

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