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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2020

01-12-2020 | Tracheostomy | Review

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Authors: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal, Miriam Katz-Salamon

Published in: Orphanet Journal of Rare Diseases | Issue 1/2020

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Abstract

Background

Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression.

Body

This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.

Conclusion

Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
Appendix
Available only for authorised users
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Metadata
Title
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Authors
Ha Trang
Martin Samuels
Isabella Ceccherini
Matthias Frerick
Maria Angeles Garcia-Teresa
Jochen Peters
Johannes Schoeber
Marek Migdal
Agneta Markstrom
Giancarlo Ottonello
Raffaele Piumelli
Maria Helena Estevao
Irena Senecic-Cala
Barbara Gnidovec-Strazisar
Andreas Pfleger
Raquel Porto-Abal
Miriam Katz-Salamon
Publication date
01-12-2020
Publisher
BioMed Central
Keyword
Tracheostomy
Published in
Orphanet Journal of Rare Diseases / Issue 1/2020
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-020-01460-2

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Research

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

Research

Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa

Research

The modified Atkins diet in children with Prader-Willi syndrome

Research

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments