Since 1983 we have been involved in the diagnostic work-up and
emergency treatment of a female patient now 48 years old who has a
mitochondrial myopathy resembling
Luft's disease. The syndrome was first described in 1959, and in more detail in 1962, by Luft and et al., who reported a picture of hypermetabolism with high temperature, extreme sweating,
tachycardia, dyspnoea at rest,
polydipsia,
polyphagia and irritability but normal thyroid function. In 1971 and 1976 Haydar and Di Mauro presented a second case and proposed treatment with
chloramphenicol. Our patient has the third case of the syndrome reported so far: her case 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 unconsciousness and apnoea. The patient then had to be intubated, ventilated and sometimes resuscitated. The diagnosis of MH susceptibility and
Luft's disease was made on biochemical grounds after the first muscle biopsy in 1983.
Therapy with
chloramphenicol failed.
Therapy with beta blockers,
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 milder episodes she was supplied with an
oxygen breathing mask at home.
Myalgia increased with the episodes starting in 1988, and the patient needed
dantrolene infusions and
analgesics at home. To facilitate venepuncture a
Port-A-Cath system was implanted in 1987, which had to be removed four times due to
infection and
sepsis. A muscle biopsy was taken in Rotterdam, which revealed differences in mitochondrial function from the biochemical findings recorded in 1983 and not in keeping with
Luft's disease. Unfortunately, the patient was not able to undergo further metabolic investigations or therapeutic trials. ANAESTHESIA. The patient received three local and six general anaesthetics in our clinic. The muscle biopsies, two in 1983 and one in 1985, were performed under local infiltration with
procaine and were uneventful. The general anaesthetics were carried out without MH trigger substances following pretreatment with
dantrolene for the following
surgical procedures: the repair of an extensive arterio-venous
fistula between the brachiocephalicus trunk and the right jugular and subclavian vein, revision of the sternum cerclage, implantations and explanations of infectious
Port-A-Cath systems. We used
etomidate,
propofol and
fentanyl or
alfentanil with
nitrous oxide and
oxygen for induction and maintenance of anaesthesia. Muscle relaxation was induced with
vecuronium or
atracurium. All cardiovascular, respiratory, metabolic and temperature measurements stayed in normal ranges. After the extensive vascular repair (av
fistula) 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 cases the postoperative period was uneventful. Only once she developed a crisis with
hyperthermia,
tachycardia, sweating and dyspnoea.
INTENSIVE CARE. From 1985 to 1992 the patient was treated in our ICU 21 times. On 11 occasions she was already intubated and being ventilated by the emergency service on arrival. Extubation was usually possible within 2-20 h. During the crisis, heart rate was about 160-190 per minute and temperature above 40 degrees C. Serum values of CK,
glucose, BUN,
electrolytes,
lactate and
thyroid hormones were always in the normal ranges. Blood gas controls showed a constant
respiratory alkalosis, arterial pCO2 values decreasing to 20 mm Hg or less. In addition to
mechanical ventilation, treatment consisted in
dantrolene infusions and
droperidol injections, supplemented from 1989 onward with
piritramide injections because of the increased severity of
myalgia. In 1991 we gave
propofol by