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Obstructive sleep apnea in Apert's and Pfeiffer's syndromes: more than a craniofacial abnormality
R C Mixter1, D J David, W H Perloff
1Division of Anesthesiology, University of Wisconsin, Madison.
Insights
Patients with Apert or Pfeiffer syndromes often have airway abnormalities causing obstructive sleep apnea. Craniofacial advancements showed limited improvement, and conservative positioning is recommended.
Area of Science:
- Genetics and Syndromology
- Respiratory Medicine
- Sleep Medicine
Background:
- Acrocephalosyndactyly type I (Apert's syndrome) and type V (Pfeiffer's syndrome) are craniosynostosis disorders.
- Obstructive sleep apnea (OSA) is a common complication in these syndromes.
- Airway abnormalities, both upper and lower, contribute to OSA pathogenesis.
Purpose of the Study:
- To evaluate the relative importance of upper and lower airway abnormalities in OSA in Apert and Pfeiffer syndromes.
- To assess the efficacy of standard craniofacial advancements in treating OSA in these patients.
- To discuss the pathogenesis and management of diffuse airway pathology.
Main Methods:
- Polysomnography was performed on nine Apert syndrome and three Pfeiffer syndrome patients.
- Preoperative and postoperative sleep studies were compared after craniofacial advancements.
- Clinical case descriptions of patients with fatal pulmonary outcomes despite tracheostomy were reviewed.
Main Results:
- All patients presented with combined upper and lower airway abnormalities.
- Lower airway pathology had a greater influence in infants, while pharyngeal (upper airway) pathology dominated in adults.
- Craniofacial advancements yielded minimal improvement in OSA.
- Three patients experienced fatal pulmonary complications despite tracheostomy.
Conclusions:
- Obstructive sleep apnea in Apert and Pfeiffer syndromes results from complex upper and lower airway pathology.
- Standard craniofacial advancements are often insufficient for OSA management.
- Conservative measures, including positioning and medical regimens, are advocated.
- The diffuse nature of airway pathology requires careful consideration in treatment strategies.
Abstract:
Nine acrocephalosyndactyly type I patients (Apert's syndrome) and three acrocephalosyndactyly type V patients (Pfeiffer's syndrome) were evaluated for the relative importance of upper and lower airway abnormalities in the generation of obstructive sleep apnea. All patients were found to have a combination of upper and lower abnormalities. The influence of lower pathology was greater in the infants, and the influence of upper airway, specifically pharyngeal, was greater in the adults. A comparison between preoperative and postoperative polysomnography revealed little improvement with standard craniofacial advancements. Furthermore, three patients are described who succumbed to pulmonary death despite tracheostomy. Conservative treatment with prone or lateral positioning and medical pulmonary regimens is advocated. Finally, the pathogenesis of this diffuse airway pathology is discussed.