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Obstructive sleep apnea in Schwartz-Jampel syndrome
1Division of Pediatric Otolaryngology, duPont Hospital for Children, Wilmington, Del., USA.
Archives of Otolaryngology--Head & Neck Surgery
|December 31, 1997
Summary
Schwartz-Jampel syndrome (SJS) can cause dangerous breathing problems during sleep. Positive airway pressure therapy at home effectively treated obstructive sleep apnea and hypoxia in an SJS patient.
Area of Science:
- Medical Genetics
- Pediatric Pulmonology
- Neuromuscular Disorders
Background:
- Schwartz-Jampel syndrome (SJS) is a rare genetic disorder.
- It is characterized by myotonia and skeletal abnormalities.
- Respiratory distress and mortality are known complications in infants and young children.
Observation:
- A case of SJS presenting with significant snoring was investigated.
- Polysomnography revealed obstructive sleep apnea (OSA) and hypoxia.
- Surgical intervention (tonsillectomy with laser palatoplasty) provided only partial relief.
Findings:
- OSA and hypoxia in SJS can be severe and persistent.
- Positive airway pressure (PAP) therapy, specifically bi-level PAP, was highly effective.
- Structural and neuromuscular deficits in SJS contribute to upper airway obstruction.
Implications:
- OSA and hypoxia should be screened for in SJS patients, even with snoring.
- Bi-level PAP is a crucial therapeutic option for managing sleep-disordered breathing in SJS.
- Understanding SJS pathophysiology aids in targeted respiratory management.