Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease

J Perinatol. 2006 Apr;26(4):259-60. doi: 10.1038/sj.jp.7211480.

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by failure of automatic control of breathing. Diagnosis is made by exclusion of other causes of hypoventilation. Genetic etiology is strongly suspected. Other autonomic nervous system dysfunctions, tumors of neural crest origin and Hirschsprung's disease are often found in affected children. Association with Hirschsprung's disease is known as Haddad syndrome. We present a newborn with respiratory distress since birth and Hirschprung's disease subsequently diagnosed with Haddad syndrome.

Publication types

  • Case Reports

MeSH terms

  • Carbon Dioxide / blood
  • Colostomy
  • DNA Repeat Expansion / genetics
  • Diagnosis, Differential
  • Epilepsy, Tonic-Clonic / diagnosis
  • Epilepsy, Tonic-Clonic / etiology
  • Hirschsprung Disease / diagnosis
  • Hirschsprung Disease / genetics*
  • Hirschsprung Disease / surgery
  • Homeodomain Proteins / genetics
  • Humans
  • Infant, Newborn
  • Long-Term Care
  • Male
  • Mutation
  • Oxygen / blood
  • Peptides / genetics
  • Postoperative Complications / diagnosis
  • Postoperative Complications / etiology
  • Respiration, Artificial
  • Respiratory Distress Syndrome, Newborn / diagnosis
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Sleep Apnea, Central / diagnosis
  • Sleep Apnea, Central / genetics*
  • Syndrome
  • Transcription Factors / genetics

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Peptides
  • Transcription Factors
  • Carbon Dioxide
  • polyalanine
  • Oxygen