Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease.
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.
The Regional Neonatal Center, Maria Fareri Children's Hospital at Westchester Medical Center, Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA.
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M
Dejhalla
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P
Parton
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SG
Golombek
D002245:Carbon Dioxide / Q000097:blood; D003125:Colostomy; D042622:DNA Repeat Expansion / Q000235:genetics; D003937:Diagnosis, Differential; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000209:etiology; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008134:Long-Term Care; D008297:Male; D009154:Mutation; D010100:Oxygen / Q000097:blood; D010455:Peptides / Q000235:genetics; D011183:Postoperative Complications / Q000175:diagnosis / Q000209:etiology; D012121:Respiration, Artificial; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics*; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; C109220:NBPhox protein; D010455:Peptides; D014157:Transcription Factors; D002245:Carbon Dioxide; C019529:polyalanine; D010100:Oxygen