Anaesthesia in patients with arthrogryposis
*Ewa Górnik-Właszczuk, Jacek Majewski, Rafał Szczygieł, Jarosław Kurak
Department of Anaesthesiology and Intensive Therapy, District Hospital of Trauma Surgery in Piekary Śląskie
Arthrogryposis is a rare congenital syndrome, characterised by multiple joint contractures. Children suffering from this disease often need surgical interventions to correct musculoskeletal abnormalities. Among problems which may be encountered are a difficult airway, myopathy, difficulties with peripheral iv placement, and the possibility of intraoperative hyperthermia.
In three described cases, we used thiopentone and cis-atracurium to induce anaesthesia, which was then maintained with nitrous-oxide and fentanyl. In one case sevoflurane was also used. No problems with intubation or hyperthermia were encountered.
Arthrogryposis multiplex congenita (AMC) is a rare congenital syndrome characterized by multiple joint contractures developing during the foetal period. AMC is an autosomal dominant disorder. The severity of its symptoms vary. In some patients they are mild. The incidence is estimated at 1/3 000-1/10 000 of life births [1, 2].
In arthrogryposis congenital contractures affect mostly distal joints; in neonates, clenched hands with overlapping and ulnarly deviated fingers and foot contractures are observed. The other musculoskeletal defects include the cleft palate or lips, maxillary retrognathia, trismus, short neck, spinal curvatures, vertebral adhesions or narrowed spinal canal. In some cases, osteoporosis and myopathy are found. In the majority of cases, the intellectual development is not impaired. Congenital heart defects develop in a low percentage of such patients.
Sometimes arthrogryposis is defined as joint contractures developing during the foetal life due to foetal immobilization caused by oligohydramnios, foetal neuropathy or myopathy as well as curare treatment of mothers with tetanus [1, 2].
The Polish literature lacks clear guidelines regarding anaesthetic management of such patients. The objective of the report is to present our experience in anaesthesia for surgical patients with arthrogryposis.
A ten-month-old female patient was admitted to hospital for surgical correction of talipes equinovalgus. The medical history revealed arthrogryposis, foramen ovale with left-right shunt, deficiency of IgA and allergic rhinitis. The physical examination did not demonstrate any structural anomalies of the facial skeleton; no difficult intubation was anticipated. The contractures were confined to distal segments of the limbs. The iv access was provided without big problems. To induce anaesthesia, the child, weighing 7.5 kg, received atropine 0.1 mg, thiopentone 25 mg, fentanyl 30 mg and cis-atracurium 1 mg. Endotracheal intubation was uneventful. The anaesthesia lasting 30 min was maintained with the mixture of N2O and O2; after surgery, the neuromuscular block was reversed with atropine 0.1 mg and neostigmine 0.2 mg. During anaesthesia, HR was 160-180 min-1, SAP 90 mm Hg, SpO2 99%. After surgery, the patient was observed in the recovery room; oxygen blood saturation was monitored using a pulse oximeter. No fever was observed during surgery or in the perioperative period.
A 7-year-old child with a displaced oblique-spiral fracture of the tibia sustained during skiing was qualified for reposition and stabilization of the fracture with the plate-screw device. The preoperative examinations did not disclose anomalies within the neck and facial skeleton; intubation conditions were evaluated as good. Contractures occurred only in lower limbs. The child weighing 36 kg was administered midazolam 1 mg, atropine 0.3 mg, fentanyl 100 µg, thiopentone 150 mg and vecuronium 3 mg; intubation with a 5.5 endotracheal tube was unremarkable. During the 45-minute anaesthesia, the child was ventilated with a mixture of N2O and O2; after surgery neostigmine 0.5 mg was administered. Anaesthesia was uneventful; HR was 110-90 min-1, SAP 110-90 mm Hg, SpO2 99-98%, ETCO2 38-39 mm Hg (5.0-5.2 kPa).
Ten months later, the patient underwent another general anaesthesia to remove the anastomosis; midazolam 1 mg, fentanyl 200 µg, atropine 0.4 mg, vecuronium 3 mg as well as N2O and O2 were administered during the procedure. Postoperatively, the patient received neostigmine 0.5 mg. Endotracheal intubation and anaesthesia were carried out without complications: SAP − 120-105 mm Hg, HR 85-100 min-1, SpO2 98-97%, ETCO2 36-37 mm Hg (4.8-4.9 kPa).
At the age of 10 years the boy was qualified for surgical correction of talipes equinovarus. During the preoperative physical examination, no anomalies within the neck and facial skeleton were found; intubation conditions were assessed as good. To induce anaesthesia, the patient weighting 48 kg received midazolam 1mg, atropine 0.3 mg, thiopentone 200 mg, fentanyl 200 mg and vecuronium 3 mg. After intubation, the 45-minute anaesthesia was maintained with the mixture of N2O and O2. During surgery, iv ketoprofen 100 mg was administered. After the completion of surgery, neuromuscular conduction was restored with atropine 0.3 mg and neostigmine 0.8 mg. During the procedure SAP was 110-100 mm Hg, HR 85-100 min-1, ETCO2 35-40 mm Hg (4.6-5.3 kPa).
After another 16 months the boy was qualified for removal of the cannulated screw from the foot operated on. His general condition was comparable with this during previous hospitalization. Anaesthesia was induced with midazolam 2 mg, thiopentone 250 mg, cis-atracurium 6 mg, fentanyl 200 mg; intubation was uneventful. After surgery neostigmine 1 mg and paracetamol were administered. During anaesthesia the child also received the mixture of N2O and O2; HR was 90-120 min-1, SpO2 100%, ETCO2 42 mm Hg (5.6 kPa).
In the procedures described, repeated anaesthesias were uneventful. After each procedure, the patient was transferred to the recovery room where all respiratory and circulatory functions were monitored using a pulse oximeter. The patient’s body temperature was normal.
A 22-year-old female patient, weighing 53 kg, was admitted due to compressive fracture of Th12 compressing the spinal cord. On admission, thoracic scoliosis with thorax deformity and prognathism were found (mouth opening was normal). The patient was qualified for urgent decompression of the spinal cord and transpedicular spine stabilization. The general anaesthesia was induced with iv midazolam 2 mg, fentanyl 100 mg, thiopentone 250 mg and vecuronium 5 mg; despite prognathism, intubation was routinely performed. Anaesthesia was maintained with sevoflurane 0.7-2% and fractionated doses of fentanyl; pain was relieved with paracetamol and ketoprofen. During anaesthesia, HR was 50-90 min-1, SAP 100-130 mm Hg, SpO2 98-99%, ETCO2 36-38 mm Hg (4.8-5.0 kPa). The anaesthesia and early postoperative period were normal.
Contractures in patients with arthrogryposis are well managed conservatively; however, patients often require surgical interventions, hence anaesthesia .
A relevant problem encountered in such cases is a “difficult airway”. Contractures characteristic of arthrogryposis may affect temporomandibular joints; due to cervical spine defects (rigid, short neck), hypoplastic mandible, cleft palate, limited mouth opening, endotracheal intubation through the mouth is likely to be difficult or impossible. Martin and colleagues  described difficulties during intubation in 4 out of 12 anaesthetized children with arthrogryposis; Baines and co-workers  reported difficult intubations in 3 out of 67 anaesthetised patients. In such cases, the use of the facial mask, laryngeal mask or nose intubation was found successful.
Scoliosis, thoracic deformity and myopathy, which occasionally accompanied this disease, predispose to hypoventilation and aspiration of gastric content to the lungs [1, 3].
Since the subcutaneous tissue is poorly developed, difficulties in obtaining the venous access may be anticipated, particularly in younger children [2, 4].
Some authors report increased sensitivity of patients to agents used for general anaesthesia (opioids, intravenous and inhalation anaesthetics) [2, 4].
Considering numerous risks related to general anaesthesia, in some cases block anaesthesia seems beneficial, which, however may be found difficult due to contractures and abnormal anatomical conditions [4, 5].
The proneness of patients with arthrogryposis to malignant hyperthermia has been widely discussed and studied. Some earlier reports stated that arthrogryposis predisposed to malignant hyperthermia yet the findings have not been well documented. Otherwise, Baines and colleagues  described a series of 398 anaesthesias in 67 children; the majority of them was anaesthetized with halothane at least once and no cases of malignant hyperthermia were noted. At present, it is stressed that occasionally surgical procedures and anaesthesia are likely to induce the hypermetabolic reaction in such patients – the phenomenon different from malignant hyperthermia. The reaction is characterized by elevated temperature, tachycardia, increased end-expiratory CO2 concentration and acidosis. Moreover, the reaction may develop even when malignant hyperthermia-agents are not used and subsides under the influence of active cooling and does not cause death. The metabolic defect underlying the hypermetabolic reaction is not known. Nonetheless, an intraoperative temperature elevation is still recorded in children with arthrogryposis . For these reasons, the occurrence of two so rare diseases, i.e. malignant hyperthermia and arthrogryposis, cannot be excluded [2, 6, 7].
Arthrogryposis is the disease poorly associated with malignant hyperthermia. Nevertheless, it is recommended to avoid suxamethonium, not only because of possible induction of hyperthermia but also hyperkalaemia resulting from the release of potassium from the muscles immobilized by contractures. The use of inhalation anaesthetics, sevoflurane and desflurane is acceptable for a short period of time (e.g. for anaesthesia induction or provision of iv access). If difficult intubation is anticipated, this kind of management is even recommended as it enables the maintenance of spontaneous respiration until the airway is secured . To date, there have been no cases of this complication described in patients with arthrogryposis administered the anaesthetics listed; for longer procedures, however, it is recommended to continue anaesthesia with the agents not inducing malignant hyperthermia. The preparation of patients for procedures should consider the guidelines designed by specialised organizations, e.g. the Malig
nant Hyperthermia Association of United States .
In the majority of cases, the course of general anaesthesia in patients with arthrogryposis is normal, which is confirmed by our observations as in each anaesthetic procedure described, endotracheal intubation was uneventful, and hyperthermia or pathological reaction to the agents administered were not observed. In the last anaesthetic procedure described, the volatile agent – sevoflurane − was decided according to the available literature findings. However, it is noteworthy that skeletal changes in anaesthetized patients were not extremely severe, which facilitated anaesthetic management.
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Oddział Anestezjologii i Intensywnej Terapii
SPWS Chirurgii Urazowej
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