Anaesthetic management of a child with Freeman-Sheldon syndrome undergoing spinal surgery.
Freeman-Sheldon syndrome, or distal arthrogryposis type 2A, is a rare congenital myopathy and dysplasia characterised by multiple contractures, abnormalities of the head and face, defective development of the hands and feet and skeletal malformations. The facial muscle contracture produces the typical 'whistling face' appearance. Anaesthetic issues include difficult intravenous access, difficult airway and postoperative pulmonary complications. Although an association with malignant hyperthermia has been suggested, this has not been confirmed. We report the management of a seven-year-old girl with Freeman-Sheldon syndrome undergoing anterior and posterior spinal surgery and describe a successful anaesthetic regimen based on a total intravenous anaesthesia technique with remifentanil and propofol without neuromuscular blocking agents. The child had an uneventful anaesthetic and postoperative course. We believe the presence of the myopathy warranted the use of a 'non-triggering' anaesthetic, as suxamethonium and volatile agents may be associated with significant complications such as muscle rigidity and rhabdomyolysis in myopathic patients, even in the absence of malignant hyperthermia.
Key Words: Freeman-Sheldon syndrome, distal arthrogryposis type 2A, spinal surgery, anaesthesia
Freeman-Sheldon syndrome (FSS) (craniocarpotarsal dysplasia or whistling face syndrome) is a rare congenital myopathic dysplasia that was first reported in 1938 (1). FSS is part of the nosologic group of pathologies currently known as distal arthrogryposis (2). In the classification of Bamshad et al (3), FSS is named distal arthrogryposis type 2A with most of the features being secondary to increased muscle tone. Both genders are affected equally. Most reported cases of FSS occur sporadically with no family history of the disease. There are three types of hereditary transmission of the syndrome, autosomal dominant inheritance (4), the more frequent type and rarer autosomal recessive and X-linked-recessive patterns (5). The understanding of the genetic heterogeneity of this syndrome is very important for the process of genetic counselling of families (5).
Contractions of the facial musculature and other soft tissues cause the patient to have a mask-like facies with circumoral fibrosis and microstomia ('whistling face'). Additional characteristics of the condition are camptodactyly (flexion of fingers) with ulnar deviation, talipes equinovarus (1) and contractures that limit mobility of the neck, making intubation very difficult (6-8). Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues (6). Electromyography and muscle biopsy show a myopathy that is classified as a congenital disproportion of fibre type and seems to be the primary cause of the deformities. This allows classification of the syndrome as a separate type of myopathic arthrogryposis (9). Stevenson et al (10) hypothesise that FSS is a disorder of muscle in which none of the conventional signs of a myopathy are present. They suggest that the condition is caused by mutations in genes that encode proteins of the contractile apparatus of fast-twitch myofibres.
Patients with FSS may be at increased risk for postoperative pulmonary complications. Pneumonia, empyema, respiratory insufficiency and recurrent respiratory infections have been reported (11). Children who have FSS often require frequent surgical intervention for multiple deformities (1). We report the management of a child with FSS undergoing anterior and posterior spinal surgery and describe a successful anaesthetic regimen based on a total intravenous anaesthesia technique with propofol and remifentanil, with intrathecal morphine for analgesia and without the use of neuromuscular blocking agents.
A seven-year-old girl weighing 15 kg with FSS was scheduled for kyphoscoliosis correction. She had a number of classical features of the syndrome including hypertelorism, ptosis, mandibular hypoplasia and microstomia with limited mouth opening. The interincisor distance was 1.5 cm, Mallampati grade IV, the thyromental distance was 1.5 cm and the distance between suprasternal notch to hyoid bone was 2 cm. She had very small nostrils, hearing aids in both ears, a short webbed neck with no mobility of head on neck, pectus excavatum deformity of the thoracic cage, severe kyphoscoliosis, ulnar deviation of the wrist and severe talipes equinovarus. The child had a modest degree of developmental delay. Physical examination of the thorax demonstrated severe kyphoscoliosis and reduced breath sounds bilaterally without any cardiac pathology. Past medical history was unremarkable except for an upper airway infection four months prior to presentation which had been treated with antibiotics. She was receiving no medications and had no allergies. ECG, echocardiography and laboratory results were all normal. Chest X-ray showed severe kyphoscoliosis. Pulmonary function tests were technically difficult to obtain because of the severe microstomia. Arterial blood gases breathing air showed a pH of 7.43, an arterial carbon dioxide tension ([P.sub.a][CO.sub.2]) of 38 mmHg and an arterial oxygen tension ([P.sub.a.[O.sub.2]) of 85 mmHg. X-rays of the neck showed a tortuous, narrowed trachea, with deviation to the left. Spinal X-ray showed the kyphoscoliosis and absence of spina bifida occulta.
[FIGURE 1 OMITTED]
General anaesthesia with awake fibreoptic intubation and awake lumbar puncture to give morphine intrathecally for postoperative analgesia were planned and explained to the parents and the child. It was explained to the parents that there was an increased risk of anaesthesia and informed consent was gained.
The child was premedicated with 1 mg/kg of hydroxyzine (Atarax[R]) administered orally one hour before the induction of anaesthesia. The child was calm when taken into the operating room, where 3-lead ECG, pulse oximetry, noninvasive blood pressure measurement and bispectral index (BIS) monitoring were applied. Peripheral venous access was successfully obtained and glycopyrrolate 10 [micro]g/kg administered intravenously to dry her copious oral secretions.
The patient was placed in a lateral position, lumbar puncture was performed with a 90mm 25 gauge pencilpoint needle at the L3-L4 interspace. Morphine 4 [micro]g/kg was administered intrathecally to provide postoperative analgesia. The patient was then placed in the horizontal supine position. A mixture of 2% lignocaine 1.0 ml and 0.25% neosynephrine 0.2 ml was applied to the right nasal mucosa to provide topical anaesthesia and mucosal vasoconstriction. The patient received oxygen via a nasal tube applied in the left nostril at a rate of 3 1/min. Sedation with a continuous infusion of 1 mg/kg/h of propofol was started, maintaining spontaneous respiration. A 4.5 mm inner diameter cuffed endotracheal tube (ETT) was generously lubricated and gently introduced through the prepared nostril until it just entered the oropharynx. The lubricated flexible fibreoptic bronchoscope (FOB) was inserted through the ETT The epiglottis and vocal cords were easily visualised. The FOB was manipulated to display the glottic opening and 1% lignocaine 1 ml was sprayed onto the vocal cords. The FOB and ETT were then advanced into the trachea where tracheal rings and the carina were identified. The FOB was withdrawn and the ETT was connected to the anaesthetic circuit. Bilateral breath sounds and end-tidal carbon dioxide confirmed correct placement.
A bolus of propofol 2 mg/kg and remifentanil 1 [micro]g/kg over one minute was then given without neuromuscular blocking agents. Mechanical ventilation with 40% oxygen and 60% nitrous oxide was begun, maintaining an end-tidal carbon dioxide level at 35 to 40 mmHg. An invasive arterial blood pressure catheter, a second intravenous catheter and a urine catheter were inserted. The anterior approach was performed by a right thoracotomy in the left lateral position. The posterior approach was performed in the prone position. Instrumentation of the spine was done with pedicle screws in the thoracic and lumbar spine. Anaesthesia was maintained with continuous infusion of remifentanil 0.1 to 0.4 [micro]g/kg/min to provide a systolic arterial pressure close to 80 mmHg and propofol 3 to 9 mg/kg/h to provide a target BIS index between 40 and 50. Volatile anaesthetics were not used.
Monitoring of posterior spinal cord function was assessed by the wake-up test performed on surgeon's request. BIS was helpful in the continuous assessment of the wakening process once the infusions of propofol and remifentanil were stopped. BIS increased from the 40s to the 80s in nine to 12 minutes after discontinuation of the intravenous drugs and nitrous oxide during the test. During the wake-up test, the patient was asked to open her eyes and move hands and feet. After finishing the wake-up test, maintenance of anaesthesia was continued, as previously described.
Blood loss was adequately corrected by transfusion of packed red blood cells. Haemoglobin was maintained between 90 and 110 g/l. Rectal temperature was maintained between 36[degrees]C and 37[degrees]C. The intraoperative course of this patient was uneventful. Heart rate and systolic arterial pressure measured at key points intraoperatively are presented in Figure 2. The surgical time was 460 minutes. On completion of the surgery, the patient was extubated in the operating room after regaining consciousness and fullfilling the extubation criteria. She was then transferred to the paediatric intensive care unit for 24 hours.
[FIGURE 2 OMITTED]
Postoperative pain was assessed at two-hour intervals by means of a VAS (0 to 100 scale). Intravenous paracetamol 15 mg/kg was given every six hours. As a rescue analgesic, intravenous morphine 0.02 mg/kg was administered if the VAS was greater than 30 and titrated to keep a respiratory rate greater than 10 breaths/min. There was no nausea or vomiting and no cardiac, or respiratory complication postoperatively. She was discharged from the paediatric intensive care unit on the second postoperative day and from the hospital on the seventh postoperative day without any incident.
There have been over 65 case reports of FSS in the medical literature, mostly concerning genetic and surgical aspects of the condition. There are relatively few articles on the anaesthetic management of this rare and interesting syndrome. Patients with FSS present several anaesthetic challenges. The most obvious concern for the anaesthesiologist is the difficult airway.
Several case reports have outlined approaches to airway management in FSS with emphasis on problems with intubation (6,8,12-14) and the different methods used to manage the difficult airway in these patients. Awake intubation has been described in two cases, one aged 11 weeks (6) and the other seven months (15), but this was not practical in a seven-year-old. The laryngeal mask airway has been used to manage the difficult airway or as a guide to intubation (16,17). Fibreoptic intubation has been successfully used (18) but not all centres have this device for infants or the appropriate training for its use. Our plan to perform fibreoptic intubation with sedation and local anaesthesia was discussed with the patient and her parents.
Most reports of anaesthetic management of patients with FSS deal with infants in their early childhood before the anatomical abnormalities have evolved. The evolution of the disease may worsen the anaesthetic problems. Kyphoscoliosis, as seen in our patient, was a complication of later childhood as a consequence of growth and weight-bearing on congenitally malformed vertebrae.
The generalised myopathy associated with FSS has been implicated in the development of scoliosis, short stature, pectus excavatum and upper and lower limb contractures. Many of the features of FSS persist and evolve with development. Many patients with FSS present with a large number and complex deformities. Typical procedures required include ocular, orthopaedic and plastic surgery. A suggested association between FSS and malignant hyperthermia is not supported by review of the literature, though abnormal responses to suxamethonium and volatile agents are well described. Stevenson et al (10) have reviewed 19 patients with FSS who underwent general anaesthesia. Two of these patients presented muscle rigidity and five of them hyperpyrexia. Laishley et al (6) reported intraoperative hyperpyrexia in a patient with FSS having halothane anaesthesia. Two reports describe masseter muscle spasm and generalised muscle rigidity in patients after anaesthetic induction with halothane or halothane and succinylcholine (15,19). Malignant hyperthermia has not been clearly documented in any of these patients. There have also been large numbers of children with this syndrome who have undergone anaesthesia, many having undergone multiple anaesthetics, without any reports of malignant hyperthermia (8,14,17). The myopathy in these patients tends to be myotonic, so rigidity especially after suxamethonium is to be expected.
Due to the concerns about volatile agents and suxamethonium in FSS and the requirements of the spinal surgery (controlled hypotension avoiding excessive intraoperative bleeding and intraoperative wake-up test), we used an anaesthetic protocol based on propofol and remifentanil without neuromuscular blocking agents or volatile anaesthetics. The potency and rapid onset of action of remifentanil is very appropriate for these cases, decreasing the risk of intraoperative awareness and blunting the haemodynamic changes during surgery. Because remifentanil's metabolism is independent of liver and renal function, our patient benefited from its analgesic properties without the risk of drug accumulation. In addition, remifentanil's short duration of action prevented prolonged postoperative respiratory depression and sedation. We found the combination of propofol and remifentanil infusions with nitrous oxide in oxygen to be successful for our patient with FSS undergoing spinal surgery. Exaggerated reactions to drugs were not observed. Intraoperative blood pressure and heart rate were stable and the wake-up test was successful. The recovery period was smooth and relatively short, less than 20 minutes. There were no serious postoperative respiratory or cardiac complications. The stable intraoperative period, uneventful recovery and lack of postoperative complications in our report may be explained by the following factors: first, the use of ultra-short agents (propofol and remifentanil) for anaesthesia, second, the use of a BIS monitoring during the operation which was maintained between 40 and 50 helping to titrate the anaesthetic drugs and avoiding intraoperative awareness, and third, the avoidance of the use of neuromuscular blocking agents.
Deformities of the hands and feet combined with thickening of subcutaneous tissues can result in difficult venous access, although this was not a problem in our patient.
Moreover, even following a noncomplicated intraoperative course, many authors reported postoperative morbidity and mortality due to atelectasis, bronchitis, respiratory insufficiency (18) or upper airway tract obstruction (20). For this reason it was important to avoid postoperative respiratory depression and provide adequate analgesia to facilitate these goals. Duggar et al (12) recommended caudal analgesia as an alternative to postoperative opioids following club foot correction in a patient with FSS. In our patient, we used intrathecal morphine for postoperative analgesia.
In conclusion, FSS can present many difficulties for anaesthesia especially in older children. The combination of propofol and remifentanil infusions appears to be a suitable anaesthetic technique for patients with FSS undergoing anterior or posterior spinal surgery. This total intravenous anaesthesia technique with intrathecal morphine without neuromuscular blocking agents provided good conditions for controlled hypotension, wake-up test and rapid recovery from anaesthesia with good postoperative analgesia with minimal sedation.
Accepted for publication on January 6, 2008.
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F. C. RICHA *, E H. YAZBECK * Department of Anaesthesia and Intensive Care, Saint-Joseph University, Hotel-Dieu de France Hospital, Beirut, Lebanon
* M.D., Anaesthesiologist.
Address for reprints: Dr F C. Richa, Anaesthesia and Intensive Care Department, Hotel-Dieu de France Hospital, Alfred Naccache Street, Ashrafieh, Beirut, Lebanon.
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|Author:||Richa, F.C.; Yazbeck, P H.|
|Publication:||Anaesthesia and Intensive Care|
|Article Type:||Clinical report|
|Date:||Mar 1, 2008|
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