title: Alcohol use in congenital central hypoventilation syndrome.
abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disorder where there is failure of automatic control of breathing. With improved recognition of CCHS, more children are appropriately diagnosed and treated in infancy, allowing survival into adult years. Because most of these children are able to participate in regular school, they are exposed to common adolescent behaviors, such as abusing alcohol and drugs. Alcohol and many illicit substances are known respiratory depressants. We report on 3 cases of adolescents/young adults with CCHS who had severe adverse events related to alcohol, including coma and death. This series illustrates the dangers of alcohol abuse in CCHS. We speculate that adolescents with CCHS may be less able to perceive the risks of substance abuse and impulsive behavior, leading to increased morbidity and mortality. Patients with CCHS appear to lack anxiety and the awareness that their inability to perceive physiologically dangerous levels of hypercarbia and hypoxia deprives them of important protective mechanisms.
authors.affiliation: Division of Pediatric Pulmonology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California, USA. maida.chen@seattlechildrens.org
authors.forename: Maida Lynn
authors.initials: ML
authors.lastname: Chen
authors.forename: Susan Beckwitt
authors.initials: SB
authors.lastname: Turkel
authors.forename: Julienne R
authors.initials: JR
authors.lastname: Jacobson
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Keens
mesh_terms: D000293:Adolescent; D000294:Adolescent Behavior; D000328:Adult; D000428:Alcohol Drinking / Q000009:adverse effects*; D001294:Attitude to Health; D016638:Critical Illness; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006935:Hypercapnia / Q000139:chemically induced* / Q000503:physiopathology; D000860:Hypoxia / Q000139:chemically induced* / Q000503:physiopathology; D008297:Male; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index; D020182:Sleep Apnea, Central / Q000151:congenital* / Q000503:physiopathology; D015996:Survival Rate