Anaesthesia for Friedreich''s ataxia

A patient with Friedreich's ataxia was anaesthetised on two occasions. The neuromuscular blocking agent was atracurium 0.5 mg/kg on the first occasion and tubocurarine 0.5 mg/kg on the second. The effect of each was monitored using the train-of-four twitch technique. Friedreich's ataxia has been reported to cause a marked sensitivity to non-depolarising muscle relaxants and hyperkalaemia, with resulting cardiac dysrhythmias after suxamethonium. This patient did not demonstrate an abnormal response to either relaxant; the operating conditions were satisfactory and recovery was not delayed. These drugs may be safely used in this condition provided that monitoring is adequate.     

Requirements for muscle relaxation in Friedreich's ataxia

Friedreich's ataxia is an inherited disorder of the nervous system, requiring special care during anaesthesia, because of increased sensitivity to muscle relaxants. We report a case of Friedreich's ataxia in a 31-year-old woman, anaesthetised on two occasions, for tendinoplasty and pes cavus repair. Atracurium was used for neuromuscular blockade and monitored by a train-of-four twitch technique. The patient's response was normal. She returned to adequate spontaneous breathing within 20 min of the last dose of the muscle relaxant without need for anticholinesterase administration. When neuromuscular function is monitored, normal doses of muscle relaxant can safely be used in these patients.     

Scoliosis in patients with Friedreich's ataxia

We reviewed 31 consecutive patients with Friedreich's ataxia and scoliosis. There were 24?males and seven females with a mean age at presentation of 15.5 years (8.6 to 30.8) and a mean curve of 51° (13° to 140°). A total of 12 patients had thoracic curvatures, 11 had thoracolumbar and eight had double thoracic/lumbar. Two patients had long thoracolumbar collapsing scoliosis with pelvic obliquity and four had hyperkyphosis. Left-sided thoracic curves in nine patients (45%) and increased thoracic kyphosis differentiated these deformities from adolescent idiopathic scoliosis. There were 17 patients who underwent a posterior instrumented spinal fusion at mean age of 13.35 years, which achieved and maintained good correction of the deformity. Post-operative complications included one death due to cardiorespiratory failure, one revision to address nonunion and four patients with proximal junctional kyphosis who did not need extension of the fusion. There were no neurological complications and no wound infections. The rate of progression of the scoliosis in children kept under simple observation and those treated with bracing was less for lumbar curves during bracing and similar for thoracic curves. The scoliosis progressed in seven of nine children initially treated with a brace who later required surgery. Two patients presented after skeletal maturity with balanced curves not requiring correction. Three patients with severe deformities who would benefit from corrective surgery had significant cardiac co-morbidities.     

Natural history of scoliosis in Friedreich's ataxia

Does scoliosis associated with Friedreich's ataxia behave like an idiopathic or a typical neuromuscular scoliosis? Should it be treated like an idiopathic or a neuromuscular curve? Since no precise information to answer these questions could be found in the orthopaedic literature, a retrospective study was undertaken of seventy-eight patients with Friedreich's ataxia who had been followed at our neuromuscular clinic. Fifty-six of these patients were found to have typical Friedreich's ataxia in accordance with the criteria of Geoffroy et al., and their cases were retained for analysis. Their mean age was twenty years (range, eight to thirty-three years). The average length of clinical follow-up was nine years and the average duration of radiographic follow-up of the scoliosis was 3.5 years. A scoliosis of more than 10 degrees was found in all patients and was associated with a hyperkyphosis in 66 per cent. Both sexes were equally affected. Fifty-seven per cent of the curves were double thoracic and lumbar; 14 per cent were thoracolumbar; 7 per cent, double thoracic and thoracolumbar; 7 per cent, thoracic; 4 per cent, lumbar; and 11 per cent, multiple small curves. Of the fifty-six patients whose cases were studied, thirty-six had been followed for at least ten years. Among these thirty-six, there were twenty whose curves were more than 60 degrees and progressed (Group I) and sixteen whose curves were 40 degrees or less and did not progress (Group II).(ABSTRACT TRUNCATED AT 250 WORDS)     

Rocuronium for muscle relaxation in two children with Friedreich's ataxia

Friedreich’s ataxia is a rare hereditary neurodegenerativedisease caused by a defect in the gene that encodes a mitochondrialprotein called frataxin. We report the use of rocuronium 0.6mg kg^–1 in two adolescent girls with Friedreich’sataxia undergoing propofol–sufentanil–oxygen–airanaesthesia for spinal surgery. Neuromuscular transmission wasmonitored using acceleromyography, and onset and recovery timeswere recorded. The clinical duration of rocuronium was comparableto that of children without neuromuscular disease (25% recoveryT₁=44 and 24 min for patients 1 and 2 respectively). Br J Anaesth 2004; 92: 592–6     

Anesthetic management in a case of Friedreich's ataxia

We describe the anaesthetic management of a 20 years old female with a Friedreich's ataxia for curettage of the uterus. After the premedication with thalamonal, diazepam and atropine the anaesthesia was induced with thiopental. Isoflurane and nitrous oxide were used for maintenance. We review the literature about this disease and its implications in anaesthesia. Anesthetic hazards to the patient with Friedreich's ataxia include potential risk of cardiac dysrhythmias and heart failure and also marked sensitivity to muscle relaxants. Respiratory complications and diabetes mellitus are other main problems in postoperative period. We conclude that this patients should be careful monitored specially cardiovascular function and neuromuscular transmission during and after anaesthesia.     

Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence

Friedreich's ataxia results in morbidity because of many factors; progressive equinovarus deformity is one of these. We studied the risk factors and incidence of this deformity. We sought to assess whether surgical management of fixed equinovarus deformity leads to functional improvement. Thirty-six patients with Friedrich's ataxia were assessed for this deformity. These patients were treated by splinting, botulinum toxin Type A injection, and surgery, as indicated by the severity, followed by an ongoing rehabilitation program. The effect of surgery was assessed using subscales of the Barthel index and functional independence measure. Severe foot deformities in which either surgery or botulinum toxin injection was recommended correlated with current age, years since disease onset, and years that the patient required a wheelchair for mobility, but not with the GAA repeat size or age at disease onset. Function and mobility were improved after surgery compared with a similar period before surgery. Three of seven patients who had surgery had significant complications. Aggressive management of foot deformities should be considered, and active measures to prevent permanent foot deformities should be pursued to maximize quality of life and independence of patients with Friedreich's ataxia.Level of Evidence: Therapeutic study, Level IV (case series-no, or historical control group).     

Anaesthesia in arthrogryposis multiplex congenita: Case report

The anaesthetic management of an 11-year-old male with arthrogryposis multiplex congenita (AMC) with myopathic features is described. The child presented with an obstructing renal calculus and a pyelolithotomy via an anterior transverse subcostal extraperitoneal incision was performed. In view of the associated hypoplastic musculature, severe scoliosis and expected increased sensitivity to various sedatives and inhalational anaesthetic agents, low-dose ketamine (10–15 µg·kg^-1 min^-1) was administered by continuous infusion, with a satisfactory result.     

Diverticulum of the lateral ventricle causing cerebellar ataxia. Case report

A case of ventricular diverticulum causing cerebellar ataxia is presented. Computerized tomography clearly demonstrated the aperture of the diverticulum in the medial wall of the trigone and its extension into the posterior fossa. The diverticulum regressed and the cerebellar ataxia disappeared after placement of a ventriculoperitoneal shunt.     

Friedreich's ataxia and scoliosis: the experience at two institutions

PURPOSE: Friedreich's ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreich's ataxia at 2 tertiary pediatric orthopaedic hospitals. METHODS: After institutional review board approval, chart review of Friedreich's ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed. RESULTS: Seventy-seven patients were identified as having Friedreich's ataxia, of which 49 (63%) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years).There were 16 (33%) double major curves, with 8 (22%) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5%).Twenty-four (49%) of patients progressed > or =6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20%) patients were treated in braces, with average progression in brace of 15 (0-44) degrees.Sixteen (33%) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81%) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49% in the thoracic spine (24%-87%) and 51% in the lumbar spine (26%-82%). This correction decreased to 39% in the thoracic (-22% to 85 %) and 30% in the lumbar spine (-35% to 82%) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2%) developed an infection and was the only patient who underwent reoperation. CONCLUSIONS: Scoliosis in Friedreich's ataxia is common (63%). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended. SIGNIFICANCE: Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.     

Anaesthesia for a patient with Friedreich’s ataxia and cardiomyopathy

Friedreich's ataxia is an inherited neuromuscular disorder often associated with significant cardiac disease. We report a case of Friedreich's ataxia in a 13-year-old girl with ulcerative colitis and hypertrophic cardiomyopathy who was successfully managed for subtotal colectomy with general anaesthesia and epidural narcotic. Anaesthetic considerations included the maintenance of fluid volume and stable cardiovascular variables in the intra- and postoperative periods.