Neonatal Med Search

CLOSE


Neonatal Med > Volume 22(3); 2015 > Article
Neonatal Medicine 2015;22(3):162-167.
DOI: https://doi.org/10.5385/nm.2015.22.3.162    Published online August 31, 2015.
Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate.
Chunglyul Baek, Ji Mi Jung, Yun Jung Lim, Ki Hoon Kim, Han Wook Yu, Gu Hwan Kim, Mi Lim Chung
1Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Pusan, Korea. forevery52@naver.com
2Department of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Pusan, Korea.
3Department of Surgery, Haeundae Paik Hospital, Inje University College of Medicine, Pusan, Korea.
4Medical Genetics Center, Asan Medical Center, Seoul, Korea.
Abstract
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disease that primarily manifests as sleep-associated respiratory insufficiency and a markedly impaired ventilatory response to hypercarbia and hypoxemia. Paired-like homeobox 2b (PHOX2B) gene mutations are known to cause CCHS. Almost all patients with CCHS are heterozygous for a poly-alanine expansion in PHOX2B. However, some patients have other germ-line abnormalities, including missense, nonsense and frame shift mutations. CCHS combined with Hirschsprung disease (Haddad syndrome) is extremely rare. Here, we report the case of a 1-day-old male neonate with recurrent apnea and bowel distension. Genetic analysis showed that he was heterozygous for a germ-line mutation in the PHOX2B gene. Only three cases of CCHS including two with Haddad syndrome confirmed by PHOX2B gene mutations have been reported in Korea. All of these cases have been heterozygous for a poly-alanine expansion mutation. This is the first report describing Haddad syndrome with a germ-line mutation in the PHOX2B gene in a Korean neonate.
Key Words: Congenital central hypoventilation syndrome, Hirschsprung disease, Haddad syndrome


ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
AUTHOR INFORMATION
Editorial Office
Rm.1207, King's garden 3 Block, 34, Sajik-ro 8-gil, Jongno-gu, Seoul 03174, Korea
Tel: +82-2-730-1993    Fax: +82-2-730-1994    E-mail: neonate2002@hanmail.net                

Copyright © 2021 by The Korean Society of Neonatology.

Developed in M2PI

Close layer
prev next