RESUMO
Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.
Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/reabilitação , Equipe de Assistência ao Paciente , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/reabilitação , Adolescente , Síndrome do Nevo Basocelular/complicações , Feminino , Humanos , Apneia Obstrutiva do Sono/etiologia , Resultado do TratamentoRESUMO
Malfunctions of the eustachian tube after Le Fort I osteotomies are rare. A 22-year-old woman was treated by Le Fort I osteotomy for maxillary retrognathism. Postoperatively she developed recurrent tubal malfunction and middle ear effusions on the left side, with no improvement after adenotomy, tonsillectomy, and grommet insertion. In consecutive computed tomography and magnetic resonance imaging scans, a forward dislocation of the left pterygoid hamulus was demonstrated. In addition, damage to the tensor veli palatini muscle was evident. Both postoperative sequelae appear to be responsible for the unilateral tubal dysfunction.