[Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia].

ABSTRACT

Menkes disease is a rare sex-linked disorder of copper metabolism, characterized with several multiple organ dysfunctions. It is frequently associated with seizure disorders, mental retardation, and urologic abnormalities. It may also have some serious respiratory complications, such as upper airway obstruction related to micrognathia, risks of gastroesophageal reflux and the aspiration with poor pharyngeal muscle control, and hazard to easy cerebral bleeding to noxious stimuli and easy fracture of the bones. We report a 1 year and 10 month-old boy of Menkes disease with a large bladder diverticulum associated with persistent urinary tract infections who required the surgical treatment. Cystostomy was scheduled and performed under general anesthesia. In the preoperative examination, three-dimentional computed tomography images were essential and very useful for preanesthetic anatomical evaluation of the upper airway, which revealed subglottic narrowing with micrognathia. Considering the anticipated difficulty of the tracheal intubation, and to avoid or minimize the noxious stimuli related to the intubation, we had chosen to use laryngeal mask airway, which provided an appropriate, safe anesthetic respiratory care in this case.