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