Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant.
10.3346/jkms.2011.26.2.312
- Author:
Chung Won LEE
1
;
Jae Ho LEE
;
Eun Young JUNG
;
Soon Ok CHOI
;
Chun Soo KIM
;
Sang Lak LEE
;
Dae Kwang KIM
Author Information
1. Institute for Medical Genetics, Keimyung University College of Medicine, Daegu, Korea. dkkimmd@kmu.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Congenital Central Hypoventilation Syndrome;
Hirschsprung Disease;
Haddad Syndrome;
PHOX2B gene
- MeSH:
Asian Continental Ancestry Group;
Base Sequence;
DNA Mutational Analysis;
Hirschsprung Disease/diagnosis/genetics/pathology;
Homeodomain Proteins/*genetics;
Humans;
Hypoventilation/congenital/diagnosis/genetics;
Infant, Newborn;
Male;
Molecular Sequence Data;
*Mutation;
Sleep Apnea, Central/diagnosis/genetics;
Transcription Factors/*genetics
- From:Journal of Korean Medical Science
2011;26(2):312-315
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypoventilation with hypercapnea and bowel obstruction. These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were discussed.
