Haddad syndrome: a case study

Neonatal Netw. 2005 Jul-Aug;24(4):41-4. doi: 10.1891/0730-0832.24.4.41.

Abstract

Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies. HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Biopsy
  • Colostomy
  • Diagnosis, Differential
  • Female
  • Fundoplication
  • Gastrostomy
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / diagnosis
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / therapy
  • Humans
  • Infant, Newborn
  • Intensive Care, Neonatal / methods*
  • Neonatal Nursing / methods*
  • Positive-Pressure Respiration
  • Pregnancy
  • Rare Diseases
  • Sleep Apnea, Central / congenital*
  • Sleep Apnea, Central / diagnosis
  • Sleep Apnea, Central / genetics
  • Sleep Apnea, Central / therapy
  • Syndrome
  • Tracheostomy