Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
case_report · Level V
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- Record sourced from PubMed, PMID 17909190.
- Also identified by PMC identifier 2094255.
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Abstract
Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who presented with chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation and an impaired response to hypercapnia.
Medical subject headings
- Homeodomain Proteins
- Hypoventilation
- Mutation
- Transcription Factors