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Four-year-old girl with Goldenhar-sequence and severe obstructive sleep apnea, symptoms, diagnosis and therapy
Insights
Sleep related breathing disorders in children are common and require prompt diagnosis. Early treatment of obstructive sleep apnea in a child with Goldenhar sequence significantly improved her growth and development.
Area of Science:
- Pediatric Pulmonology
- Clinical Genetics
Background:
- Sleep related breathing disorders in children are increasingly recognized but underdiagnosed due to limited access to cardiorespiratory polygraphy.
- The prevalence of pediatric sleep breathing disorders is higher than previously estimated, necessitating improved diagnostic capabilities.
Observation:
- A 4-year-old girl with Goldenhar sequence (facio-auriculo-vertebral dysplasia) presented with severe obstructive sleep apnea.
- Despite surgical attempts to correct mandibular hypoplasia, the obstructive sleep apnea symptoms were initially missed, leading to growth and cognitive delays.
Findings:
- Cardiorespiratory polygraphy confirmed severe obstructive sleep apnea.
- Interdisciplinary treatment of obstructive sleep apnea resulted in substantial improvements in the child's growth and mental development.
Implications:
- This case highlights the critical importance of diagnosing and treating obstructive sleep apnea in children, particularly those with craniofacial anomalies.
- Timely diagnosis and management of pediatric obstructive sleep apnea can prevent long-term developmental consequences.
- Accessible and efficient diagnostic methods for pediatric sleep related breathing disorders are crucial for early intervention.
Abstract:
Recently sleep related breathing disorders in children have received considerable attention. Unfortunately, cardiorespiratory polygraphy is expensive and time-consuming, and up until now today only a few pediatric hospitals have complete facilities for all-night cardiorespiratory polygraphy. Nevertheless, the prevalence of sleep related breathing disorders in children is higher than has previously been thought. To show the importance of proper diagnosis of sleep related breathing disorders, we report a case of a 4-year-old girl with severe obstructive sleep apnea caused by Goldenhar-sequence (facio-auriculo-vertebral dysplasia). Despite some treatment efforts to correct the aplastic right mandible, the symptoms of obstructive sleep apnea were not immediately recognized and remained untreated. Untreated obstructive sleep apnea led to growth and mental retardation. After polygraphic confirmation of obstructive sleep apnea and appropriate interdisciplinary treatment, the 4-year-old girl made rapid advances in growth and mental development.