Congenital central hypoventilation syndrome (CCHS): management
Evidence-based neurology checklist on congenital central hypoventilation syndrome (cchs): management: Genetics This is caused by mutations in the PHOX2b gene on chromosome 4p This is usually a polyalanine repeat expansion mutation Non polyalanine repeat mutations (NPARM) have a worse phenotype The…
Genetics
- This is caused by mutations in the PHOX2b gene on chromosome 4p
- This is usually a polyalanine repeat expansion mutation
- Non polyalanine repeat mutations (NPARM) have a worse phenotype
- The transmission is autosomal dominant
Pathology
Polysomnography: features
Treatment
References
- Sandoval RL, Zaconeta CM, Margotto PR, et al. Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review. Rev Paul Pediatr 2016; 34:374-378.
- Schirwani S, Pysden K, Chetcuti P, Blyth M. Carbamazepine improves apneic episodes in congenital central hypoventilation syndrome (CCHS) with a novel PHOX2B exon 1 missense mutation. J Clin Sleep Med 2017; 13:1359-1362.
- Kasi AS, Jurgensen TJ, Yen S, Kun SS, Keens TG, Perez IA. Three-generation family with congenital central hypoventilation syndrome and novel PHOX2BGene non-polyalanine repeat mutation. J Clin Sleep Med 2017; 13:925-927.
- Maloney MA, Kun SS, Keens TG, Perez IA. Congenital central hypoventilation syndrome: diagnosis and management. Expert Rev Respir Med 2018; 12:283-292.
- Magalhães J, Madureira N, Medeiros R, et al. Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation. Sleep Breath 2015; 19:55-60.
