Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report

Sleep Breath. 2012 Dec;16(4):951-5. doi: 10.1007/s11325-011-0614-x. Epub 2011 Nov 19.

Authors

Lia Rita Azeredo Bittencourt¹, Mario Pedrazzoli, Fabiana Yagihara, Gabriela Pontes Luz, Silvério Garbuio, Gustavo Antonio Moreira, João Aléssio J Perfeito, Sergio Tufik

Affiliation

¹ Disciplina de Medicina e Biologia do Sono, Departamento de Psicobiologia, Universidade Federal de São Paulo, Rua Napoleão de Barros, 925, 04024-002, São Paulo, São Paulo, Brazil. lia@psicobio.epm.br

PMID: 22102181
DOI: 10.1007/s11325-011-0614-x

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Child
Child, Preschool
Continuous Positive Airway Pressure
DNA Mutational Analysis*
DNA Repeat Expansion / genetics*
Follow-Up Studies
Homeodomain Proteins / genetics*
Humans
Hypoventilation / congenital*
Hypoventilation / diagnosis
Hypoventilation / genetics
Hypoventilation / therapy
Infant
Infant, Newborn
Male
Middle Aged
Patient Compliance
Phenotype
Polysomnography
Recurrence
Respiratory Distress Syndrome, Newborn / diagnosis
Respiratory Distress Syndrome, Newborn / genetics
Sleep Apnea, Central / diagnosis
Sleep Apnea, Central / genetics*
Sleep Apnea, Central / therapy
Tracheotomy
Transcription Factors / genetics*

Substances

Homeodomain Proteins
NBPhox protein
Transcription Factors

Supplementary concepts

Congenital central hypoventilation syndrome