Obstructive sleep apnea (OSA) is more common in children with Down syndrome, affecting up to 60% of patients, and may persist in up to 50% of patients after adenotonsillectomy. These children with persistent moderate to severe OSA require continuous positive airway pressure, which is often poorly tolerated, or even tracheotomy for severe cases. The hypoglossal nerve stimulator is an implantable device that produces an electrical impulse to the anterior branches of the hypoglossal nerve, resulting in tongue protrusion in response to respiratory variation. It is an effective treatment of sleep apnea in select adult patients because it allows for alleviation of tongue base collapse, improving airway obstruction. Herein we describe the first pediatric hypoglossal nerve stimulator implantation, which was performed in an adolescent with Down syndrome and refractory severe OSA (apnea hypopnea index [AHI]: 48.5 events/hour). The patient would not tolerate continuous positive airway pressure and required a long-standing tracheotomy. Hypoglossal nerve stimulator therapy was well tolerated and effective, resulting in significant improvement in the patient’s OSA (overall AHI: 3.4 events/hour; AHI: 2.5–9.7 events/hour at optimal voltage settings depending on sleep stage and body position). Five months after implantation, the patient’s tracheotomy was successfully removed and he continues to do well with nightly therapy.
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Oculopharyngeal muscular dystrophy is an autosomal dominant myopathy that exhibits the symptoms of progressive dysphagia, with ptosis usually occurring after the age of 40. Literature review of this rare disease reveals a high incidence in the French-Canadian population, as well as in five other ethnic groups. Our article details the clinical history and genealogy of the disease through four generations in a family of English descent. Radiographic studies show a cricopharyngeal bar and aspiration. Results of electron microscopic examination of muscle biopsy specimens from the vastus lateralis and cricopharyngeus muscles confirm a chronic, active, severe, myopathic process that is more pronounced in the cricopharyngeus muscle. The recommended treatment for blepharoptosis and the cricopharyngeus muscle pathosis is discussed.
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