title: Anaesthetic management of a patient with Leigh's syndrome with central hypoventilation and obstructive sleep apnoea.
abstract: Leigh's syndrome, which is characterised by progressive neurodegeneration involving the brainstem and basal ganglia, belongs to a family of disorders classified as mitochondrial myopathies. It is most commonly transmitted by an autosomal recessive mode of inheritance, but can sometimes occur in a mitochondrial pattern. It typically presents during infancy with developmental delay and deterioration of brainstem function. Respiratory failure is the common cause of death and postoperative morbidity in patients with Leigh's disease. Herein, we report the case of a 17-year-old female patient with Leigh's syndrome who underwent general anaesthesia for a tracheostomy, which was performed in view of the patient's requirement for long-term ventilation and frequent toileting for secretions. Her respiratory complications included central hypoventilation secondary to brainstem involvement, and obstructive sleep apnoea due to obesity and muscle dystonia. She was hospitalised for acute respiratory decompensation secondary to hospital-acquired pneumonia. We review the anaesthetic implications of this disease and discuss its impact on preoperative, intraoperative and postoperative management.
authors.affiliation: Department of Anaesthesia, National University Health System (NUHS), Main Building Level 3, 5 Lower Kent Ridge Road, Singapore 119074. aileen.tan@mohh.com.sg.
authors.forename: Aileen Ling Wan
authors.initials: AL
authors.lastname: Tan
authors.affiliation: Department of Anaesthesia, National University Health System (NUHS), Main Building Level 3, 5 Lower Kent Ridge Road, Singapore 119074. aileen.tan@mohh.com.sg.
authors.forename: Raymond
authors.initials: R
authors.lastname: Goy
mesh_terms: D000293:Adolescent; D000768:Anesthesia, General / Q000379:methods*; D000777:Anesthetics / Q000627:therapeutic use*; D004421:Dystonia / Q000473:pathology; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000175:diagnosis; D007888:Leigh Disease / Q000150:complications* / Q000188:drug therapy*; D008928:Mitochondria / Q000473:pathology; D011183:Postoperative Complications; D020181:Sleep Apnea, Obstructive / Q000150:complications*; D014691:Ventilation
chemical_list: D000777:Anesthetics