The Turkish Journal of Pediatrics
2012 , Vol 54 , Num 5
Congenital Central Hypoventilation Syndrome with Hirschsprung’s Disease due to PHOX2B Gene Mutation in a Turkish Infant
Departments of 1Pediatric Surgery and 2Pathology, and 3Division of Neonatology, 4Department of Pediatrics, Ministry
of Health Umraniye Training and Research Hospital, İstanbul, Turkey.
E-mail: fatmakaya06@yahoo.com.tr
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 in 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.
Keywords :
Haddad syndrome, congenital central hypoventilation, Hirschsprung’s disease.