J Korean Med Sci.  2011 Feb;26(2):312-315. 10.3346/jkms.2011.26.2.312.

Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant

• Lee CW
• Lee JH
• Jung EY
• Choi SO
• Kim CS
• Lee SL
• Kim DK

• KMID: 1782126
• DOI: http://doi.org/10.3346/jkms.2011.26.2.312

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.

Keyword

Congenital Central Hypoventilation Syndrome; Hirschsprung Disease; Haddad Syndrome; PHOX2B gene

MeSH Terms

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

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