Anaesthesia, 1991, Volume 46, pages 314-315

CASE REPORT

Hypermetabolism in arthrogryposis multiplex congenita

P. M. HOPKINS, F. R. ELLIS AND P. J. HALSALL

Summary
Two patients who developed hypermetabolic reactions during anaesthesia and surgery and who were sujering from arthrogryposis
multiplex congenita are reported and it is proposed that the reaction is distinct from malignant hyperthermia and independent of
the anaesthetic agents used. The implications ,for anaesthetists involved in the management of patients with arthrogryposis
multiplex congenita are discussed.

Key words
Complications; arthrogryposis multiplex congenita.
H yperthermia.

Anaesthesia in patients with arthrogryposis multiplex
congenita (AMC) is sparsely documented in the literature.
However, in six out of nine reports of anaesthesia in this
condition'-' an increase in body temperature was recorded.
Furthermore, in five of these case report^',^.^-* the pyrexial
response was assumed to indicate that the patient was
susceptible to malignant hyperthermia (MH), without the
benefits of recognised procedures for the diagnosis of MH
susceptibility" which have since been published. This has
led at least one standard text of anaesthesia" to associate
AMC with MH.
We believe the hypermetabolic response observed during
anaesthesia and surgery in these patients is distinct from
MH because of our experience with two families with
children with AMC.
Case histories
Case 1
A 2-year-old boy with AMC was anaesthetised for correc-
tion of multiple web syndrome. Following induction with
cyclopropane, halothane and suxamethonium his
trachea proved difficult to intubate; his temperature at this
time was 373°C. After 40 minutes the temperature had
risen to 38.7"C and biochemical investigation showed a
plasma potassium level of 5.7 mmol/litre and pH of 7.125.
Anaesthesia was discontinued because the child, with
pyrexia, acidosis and hyperkalaemia, was assumed to have
MH. Treatment with bicarbonate, dantrolene and body-
cooling returned the body temperature and biochemical
indices to within normal limits after one hour and the child
appeared well.
He was thought to be too young to submit for muscle
biopsy, so both parents were subsequently investigated for
MH susceptibility by in vitro muscle contracture testing
with halothane and caffeine according to the protocol of
the European Malignant Hyperthermia Group'" and were
found to be normal.
Case 2
A 5-year-old Afghan boy with AMC was to undergo
release of contractures of the fingers of his right hand and
tendon transfers. He was premedicated with trimeprazine 3
mg/kg and anaesthetised with thiopentone, fentanyl and
atracurium. Tracheal intubation was achieved easily, inter-
mittent positive pressure ventilation started and anaes-
thesia maintained with enflurane and nitrous oxide in
oxygen. Monitoring included ECG, blood pressure, naso-
pharyngeal temperature and end-tidal carbon dioxide
measurement. After 45 minutes the end-tidal carbon
dioxide began to rise, the heart rate increased from 110 to
140 and the temperature began rising at a rate of 0.1"C
every 5 minutes. Active cooling was started when the
temperature reached 38"C, the enflurane stopped and
anaesthesia continued with nitrous oxide in oxygen and
increments of fentanyl. This regimen successfully resolved
the hypermetabolic response and the procedure was
completed without further incident. However, a tempera-

P.M. Hopkins, MB, BS, FCAnaes, Lecturer, F.R. Ellis, PhD, FCAnaes, Reader, P.J. Halsall, MB, ChB, Clinical Assistant,
University Department of Anaesthesia, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF.
Accepted 21 August 1990.

0003-2409/9 1/050374+ 02 $03.00/0 @ 1991 The Association of Anaesthetists of Gt Britain and Ireland 374
 Hypermetabolism in arthrogryposis multiplex congenita 375

ture of 38°C developed 2 hours after operation which also an hypermctabolic response in the absence of M H trig-
responded to cooling. Biochemical studies at the time of the gering drugs.
peroperative pyrexia showed normal serum potassium, It is important that staff anaesthetising a patient with
creatine kinase and p H values. The first specimen of urine AMC are aware that there is a possibility of an hyper-
passed after operation contained no myoglobin. metabolic response that is distinct from MH, because the
Five months later the surgical procedure was repeated on AMC response will respond to active cooling, while M H
the left hand. Anaesthesia was induced with thiopentone, requires the cessation of triggering agents, cooling, intrave-
and maintained with pancuronium and infusions of nous dantrolene, the abandonment of the surgical pro-
fentanyl and propofol as well as nitrous oxide in oxygen. cedure and intensive therapy of any ensuing metabolic
Despite the use of agents which are known not to trigger derangement.
M H an hypermetabolic response also occurred during this We conclude, therefore, that an hypermetabolic response
procedure. After one hour of anaesthesia, there was a rise to anaesthesia and surgery occurs in patients with AMC
in body temperature, tachycardia and increased end-tidal that is distinct from MH, and that this response is indepen-
carbon dioxide. Thcse changes, which were reversed by dent of the type of anaesthetic agents used. This type of
active cooling measures, recurred when the cooling was response should be anticipated, appropriate monitoring for
stopped and controlled once more by cooling which was its detection used, and methods of cooling available.
continued for the remainder of the procedure. Finally, it should be remembered that it is possible for
two rare conditions, such as A M C and MH, to be present
coincidentally in the same patient.
Discussion
M H has been associated with several conditions, mostly
musculoskeletal abnormalities, but these associations have References
been shown to be probably coincidental other than that
GS, KAULHL,
1. OBEROI GILLIS, BATRA RK. Anaesthesia in
with central core disease.” arthrogryposis multiplex congenita. Case report. Canadian
If the incidence of M H in A M C is as high as might be Journal of Anaesthesia 1987; 3 4 288-90.
inferred from the cases of AMC reported in the 2. YODONOM, TANIGUCHI K, MATSUKI A, OYAMA T. Anesthesia
literature,’-’ patients with A M C and their families would for a patient with congenital arthrogryposis. Masui Japanese
Journal of Anesthesiology 1983; 32: 871-5.
have to be assumed to be M H susceptible until their M H 3. HONDA N, KONNOK, ITOHDA Y, NISHINO M, MATSUSHIMA S,
status had been diagnosed by muscle biopsy and in vitro HASEBA S, HONDA Y, GOTOHY. Malignant hyperthermia and
contracture testing. Althesin. Canadian Anaesthetis1.s Society Journal 1977; 24:
In their review of anaesthetic experience in 67 patients 514-21.
with AMC, Baines et 121.’ reported that none suffered any 4. ITOHDA Y, ODA S, NlSHlNo M, IMANOK, HASEBAJ.
Anaesthetic experience in congenital arthrogryposis multiplex.
untoward event. However, the authors admit that tempera- Masui Japanese Journal of Anesthesiology 1916; 25: 691-703.
ture was not always recorded. It is therefore possible that 5. CONRAD JA, FROSTHM. Evaluation of subcutaneous heel-
hypermetabolic responses went undetected. The tendency cord lengthening. Clinical Orthopedics 1969; 64: 121-7.
for an individual child with AMC to develop an hyper- 6. RELTONJES, CREIGHTON RE, JOHNSTON AE, PELTONDA,
metabolic response may depend on whether the aetiology CONN AW. Hyperpyrexia in association with general
anaesthesia in children. Canadian Anaesthetists Society Journal
of the arthrogryposis is primarily neurogenic or myogenic 1966; 13: 419-24.
and this may be one of the reasons why this type of 7. KINGJO, DENBOROUGH MA, ZAPFPW. The myopathies of
reaction is not always seen. malignant hyperpyrexia. Clinical Studies in Myology,
The first patient we have reported was assumed t o be an International Congress Series No. 295, 535-42.
8. BAUDENDISTEL L, GOUDSOUZIAN N, COTEC. STRAFFORD M.
M H reaction, but subsequent parental investigations End-tidal CO, monitoring. Its use in the diagnosis and
showed that this was not the case, unless the child had management of malignant hyperthermia. Anaesthesia 1984; 3 9
exhibited a spontaneous mutation, which is thought to be 1000-3.
unlikely. It might be argued that without performing 9. BAINESDB, DOUGLAS ID, OVERTON JH. Anaesthesia for
muscle biopsies and in vitro contracture testing on the patients with arthrogryposis multiplex congenita: what is the
risk of malignant hyperthermia? Anuesthesia and Inrensivt,
parents of the second child it is impossible to exclude the Cure 1986; 14: 370-2.
child from being M H susceptible. However, we believe 10. EUROPEAN MALIGNANT HYPERTHERMIA GROUP. A protocol for
lhere are sufficient criteria to conclude that the hyper- the investigation of malignant hyperthermia (MH)
metabolic response was not MH: the normal results of the susceptibility. British Journal of Anaesrhesiu 1984; 56: 1267-9.
1 1 . ATKINSONRS, RUSHMANGB, LEE JA. A synopsis of
biochemical investigations carried out at the time of the Anaesthesia, 10th edn. Bristol: John Wright, 1987.
first reaction; the successful treatment of each reaction with 12. BROWNELLAKW. Malignant hyperthermia: relationship to
cooling measures and most significantly, the occurrence of other diseases. British Journal of Anaesthesia 1988; 60: 303-8.