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Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
Journal of Korean Medical Science ; : 312-315, 2011.
Article in English | WPRIM | ID: wpr-37693
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Transcription Factors / DNA Mutational Analysis / Molecular Sequence Data / Base Sequence / Homeodomain Proteins / Sleep Apnea, Central / Asian People / Hirschsprung Disease / Hypoventilation / Mutation Limits: Humans / Male / Infant, Newborn Language: English Journal: Journal of Korean Medical Science Year: 2011 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Transcription Factors / DNA Mutational Analysis / Molecular Sequence Data / Base Sequence / Homeodomain Proteins / Sleep Apnea, Central / Asian People / Hirschsprung Disease / Hypoventilation / Mutation Limits: Humans / Male / Infant, Newborn Language: English Journal: Journal of Korean Medical Science Year: 2011 Type: Article