title: Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
abstract: The association of congenital central hypoventilation syndrome (also known as Ondine's curse) and Hirschsprung's disease is termed Haddad syndrome, which is an extremely rare disorder. Recent studies have described that the PHOX2B gene mutation was responsible for congenital central hypoventilation syndrome. We report a term newborn male infant with clinical manifestations of recurrent hypoventilation with hypercapnia and bowel obstructions. These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease. PHOXB direct sequencing showed a heterozygous in-frame duplication of 21 bp leading to an expansion of +7 alanines within the 20 alanine stretch of the PHOX2B gene and confirmed our diagnosis. In addition to a high index of clinical suspicion, testing for PHOX2B mutation can assist iq the diagnosis of congenital central hypoventilation syndrome and in the prediction of disease progression. Infants presenting with congenital central hypoventilation syndrome should also be screened for Hirschsprung's disease.
authors: Department Pediatric Surgery, Ministry of Health Umraniye Training and Research Hospital, Istanbul, Turkey.
authors: Aytekin
authors: A
authors: Kaymakçi
authors: Fatma
authors: F
authors: Narter
authors: Ahmet Sami
authors: AS
authors: Yazar
authors: Müberra Seğmen
authors: MS
authors: Yilmaz
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D016368:Frameshift Mutation; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000378:metabolism; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins; D020182:Sleep Apnea, Central / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014421:Turkey
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D004247:DNA