ANESTHESIA AND INTENSIVE-CARE FOR A PATIE NT WITH MITOCHONDRIAL MYOPATHY AND A GENERAL CONDITION SIMILAR TO THAT SEEN WITH MALIGNANT HYPERTHERMIA

Since 1983 we have been involved in the diagnostic work-up and emergen cy treatment of a female patient now 48 years old who has a mitochondr ial myopathy resembling Luft's disease. The syndrome was first describ ed in 1959, and in more detail in 1962, by Luft and et al., who report ed a picture of hypermetabolism with high temperature, extreme sweatin g, tachycardia, dyspnoea at rest, polydipsia, polyphagia and irritabil ity but normal thyroid function. In 1971 and 1976 Haydar and Di Mauro presented a second case and proposed treatment with chloramphenicol. O ur patient has the third case of the syndrome reported so far: her cas e was initially published in 1987. Case report. Since her 17th year of life the patient had suffered from episodes of fever, tachycardia and sweating. At the age of 32 these attacks worsened, leading to unconci ousness and apnoea. The patient then had to be intubated, ventilated a nd sometimes resuscitated. The diagnosis of MH susceptibility and Luft 's disease was made on biochemical grounds after the first muscle biop sy in 1983. Therapy with chloramphenicol failed. Therapy with beta blo ckers, vitamin C and K or E, coenzyme Q10 and a high-caloric diet was started in 1985. The patient was registered with an emergency service, which flew her to our ICU whenever she had a severe crisis. For milde r episodes she was supplied with an oxygen breathing mask at home. Mya lgia increased with the episodes starting in 1988, and the patient nee ded dantrolene infusions and analgesics at home. To facilitate venepun cture a Port-A-Cath system was implanted in 1987, which had to be remo ved four times due to infection and sepsis. A muscle biopsy was taken in Rotterdam, which revealed differences in mitochondrial function fro m the biochemical findings recorded in 1983 and not in keeping with Lu ft's disease. Unfortunately, the patient was not able to undergo furth er metabolic investigations or therapeutic trials. Anaesthesia. The pa tient received three local and six general anaesthetics in our clinic. The muscle biopsies, two in 1983 and one in 1985, were performed unde r local infiltration with procaine and were uneventful. The general an aesthetics were carried out without MH trigger substances following pr etreatment with dantrolene for the following surgical procedures: the repair of an extensive arterio-venous fistula between the brachiocepha licus trunk and the right jugular and subclavian vein, revision of the sternum cerclage, implantations and explantations of infectious Port- A-Cath systems. We used etomidate, propofol and fentanyl or alfentanil with nitrous oxide and oxygen for induction and maintenance of anaest hesia. Muscle relaxation was induced with vecuronium or atracurium. Al l cardiovascular, respiratory, metabolic and temperature measurements stayed in normal ranges. After the extensive vascular repair (av fistu la) the patient had to be mechanically ventilated for some hours until normal body temperature was restored. At the end of all other periods of anaesthesia she was extubated in the operating theatre. In five ca ses the postoperative period was uneventful. Only once she developped a crisis with hyperthermia, tachycardia, sweating and dyspnoea. Intens ive care. From 1985 to 1992 the patient was treated in our ICU 21 time s. On 11 occasions she was already intubated and being ventilated by t he emergency service on arrival. Extubation was usually possible withi n 2-20 h. During the crisis, heart rate was about 160-190 per minute a nd temperature above 40-degrees C. Serum values of CK, glucose, BUN, e lectrolytes lactate and thyroid hormones were always in the normal ran ges. Blood gas controls showed a constant respiratory alkalosis, arter ial pCO2 values decreasing to 20 mm Hg or less. In addition to mechani cal ventilation, treatment consisted in dantrolene infusions and drope ridol injections, supplemented from 1989 onward with piritramide injec tions because of the increased severity of myalgia. In 1991 we gave pr opofol by continuous infusion throughout the period of mechanical vent ilation. The crisis was usually followed by a period of weakness and s leep. Starting in 1988, the patient suffered from recurrent episodes o f catheter-associated sepsis, which led to antibiotic treatment, chang es of the Port-A-Cath system and its final explantation in 1992. Concl usion. This patient enabled us to gain experience with safe anaesthesi a in mitochondrial myopathy in association with a positive in vitro co ntracture test. Treatment of the crisis was always symptomatic and non -specific. This applies even to dantrolene. The recurrent septic episo des finally blurred the clinical picture, and in recent years we have been unable to recognize whether the basic myopathy or the infection m ade the patient's situation worse.