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KMID : 0191120110260020312
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Journal of Korean Medical Science
2011 Volume.26 No. 2 p.312 ~ p.315
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Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
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Lee Chung-Won
Lee Jae-Ho
Jung Eun-Young
Choi Soon-Ok
Kim Chun-Soo
Lee Sang-Lak
Kim Dae-Kwang
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Abstract
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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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KEYWORD
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Congenital Central Hypoventilation Syndrome, Hirschsprung Disease, Haddad Syndrome, PHOX2B gene
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