MANAGEMENT OF MITOCHONDRIAL DISEASE ON AN INTENSIVE-CARE UNIT

Patients with mitochondrial disease may present to the Intensive Care Unit (ICU) with a variety of neurological and general medical disorder s. Eleven patients were admitted to a neurological ICU between 1970 an d 1992 because of respiratory insufficiency, status epilepticus and/or metabolic encephalopathy associated with mitochondrial disease. Respi ratory impairment occurred in eight patients and was associated with n octurnal hypoventilation due to respiratory muscle weakness, aspiratio n due to bulbar weakness and abnormalities of central control leading to a reduced CO, drive, irregular respiratory patterns and sleep apnoe a. Seven patients received continuous respiratory support during the a cute illness; three were subsequently weaned to domiciliary ventilatio n, and four died. Five patients had stroke-like episodes, which in two were recurrent. Four patients developed tonic-clonic grand mal epilep sy associated with myoclonic fits (2 patients), absences (2), focal fi ts (1) and status epilepticus (2). Encephalopathy was associated with recurrent lactic acidosis (2 patients), cardiac failure (2), hyponatra emia (2), renal abnormalities (3) and complete heart block (1). Althou gh rare, mitochondrial disease should be considered in any patient wit h unexplained respiratory failure, intractable epilepsy, lactic acidos is or recurrent stroke.