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[Sleep disordered breathing in group A xeroderma pigmentosum]
1Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University.
No to Hattatsu = Brain and Development
|July 1, 1994
Summary
Sleep disordered breathing (SDB) affects over a third of patients with xeroderma pigmentosum (XP) over 12 years old, potentially causing daytime sleepiness. Early detection and management of SDB in XP patients are crucial.
Area of Science:
- Neurology
- Pulmonology
- Genetics
Context:
- Xeroderma pigmentosum (XP) is a rare genetic disorder.
- Sleep disordered breathing (SDB) is a potential complication.
- This study investigates SDB in XP patients.
Purpose:
- To assess the prevalence and characteristics of SDB in a cohort of 12 xeroderma pigmentosum (XP) patients.
- To correlate SDB findings with age and clinical presentation.
- To explore the potential link between SDB, neurological function, and XP.
Summary:
- Twelve patients with xeroderma pigmentosum (XP) (ages 10 months-25 years) underwent polysomnography to evaluate sleep disordered breathing (SDB).
- Four patients (over 12 years old) exhibited SDB, including sleep apnea and nocturnal desaturation.
- SDB types varied by age, with central SDB in younger patients and mixed types in older ones, often associated with daytime sleepiness.
Impact:
- Highlights the significant prevalence of SDB in older XP patients.
- Suggests a link between SDB, brain stem dysfunction, and peripheral neuropathy in XP.
- Emphasizes the need for vigilance regarding SDB in XP patients over 12 years old.