Home mechanical ventilation in mitochondrial encephalomyopathy syndrome.

Abstract

Long-term home mechanical ventilation of children has only recently become more practically feasible and ethically acceptable by the medical community. It has been particularly controversial in cases of degenerative myopathies in which quality of life has been questioned. There are no reports in the literature of long-term home mechanical ventilation of a child with mitochondrial encephalomyopathy (MELAS) syndrome despite the many descriptions of possible etiologies of the concomitant respiratory failure. The patient reported here has used home mechanical ventilation for 6 years with few medical complications, no hospitalizations in the past 3 years, and increased function in activities of daily living. Despite the ill-defined nature of the disease and uncertain prognosis, we believe that long-term home mechanical ventilation of children with early onset MELAS syndrome is a viable option for both patients and their families and results in overall improvement in quality of life for the patient.