Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

Anaesthetic considerations of adults with Morquio's syndrome - a case report

<p>Abstract</p> <p>Background</p> <p>The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the oropharnyx.</p> <p>Case presentation</p> <p>Herein we describe the anaesthetic considerations and management of a 26 year old adult with Morquio syndrome, who presented for an elective hip replacement.</p> <p>Conclusion</p> <p>This report details an awake fiberoptic intubation in an adult with Morquio syndrome. We recommend that this approach be considered in patients with Morquio syndrome undergoing general anaesthesia.</p

Anti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI

Although enzyme replacement therapy (ERT) is available for several lysosomal storage disorders, the benefit of this treatment to the skeletal system is very limited. Our previous work has shown the importance of the Toll-like receptor 4/TNF-alpha inflammatory pathway in the skeletal pathology of the mucopolysaccharidoses (MPS), and we therefore undertook a study to examine the additive benefit of combining anti-TNF-alpha therapy with ERT in a rat model of MPS type VI.MPS VI rats were treated for 8 months with Naglazyme® (recombinant human N-acetyl-galactosamine-4-sulfatase), or by a combined protocol using Naglazyme® and the rat-specific anti-TNF-alpha drug, CNTO1081. Both protocols led to markedly reduced serum levels of TNF-alpha and RANKL, although only the combined treatment reduced TNF-alpha in the articular cartilage. Analysis of cultured articular chondrocytes showed that the combination therapy also restored collagen IIA1 expression, and reduced expression of the apoptotic marker, PARP. Motor activity and mobility were improved by ERT, and these were significantly enhanced by combination treatment. Tracheal deformities in the MPS VI animals were only improved by combination therapy, and there was a modest improvement in bone length. Ceramide levels in the trachea also were markedly reduced. MicroCT analysis did not demonstrate any significant positive effects on bone microarchitecture from either treatment, nor was there histological improvement in the bone growth plates.The results demonstrate that combining ERT with anti-TNF-alpha therapy improved the treatment outcome and led to significant clinical benefit. They also further validate the usefulness of TNF-alpha, RANKL and other inflammatory molecules as biomarkers for the MPS disorders. Further evaluation of this combination approach in other MPS animal models and patients is warranted

Harmonic Scalpel Tonsillectomy versus Hot Electrocautery and Cold Dissection: An Objective Comparison

We conducted a large-scale retrospective study to compare the surgical efficacy, practical utility, safety, and cost-effectiveness of ultrasonic harmonic scalpel tonsillectomy, hot electrocautery, and cold surgical dissection. We based our findings on the length of operating time, complication rates, the length of hospital stay for patients with complications, and relative costs. We then compared our findings with those published in earlier reports, none of which were based on a three-way comparison. Our study population was made up of 316 patients—175 males and 141 females aged 1 to 23 years (mean: 7.3)—who had undergone adenotonsillectomy or tonsillectomy alone at our tertiary care children's hospital between Sept. 1, 2000, and Aug. 31, 2001. The harmonic scalpel was used on 75 patients (23.7%), electrocautery on 109 patients (34.5%), and cold surgical dissection on 132 (41.8%). The mean length of operating time for adenotonsillectomy was 42.4 (n = 70), 43.0 (n = 103), and 49.2 (n = 95) minutes, respectively; the corresponding times for tonsillectomy alone were 23.6 (n = 5), 30.2 (n = 6), and 35.3 (n = 37) minutes. Overall complication rates were 2.7, 5.5, and 6.1%, respectively. Hospital stays for immediate (&lt;24 hr) postoperative bleeding averaged 2.0, 1.0, and 0.7 days, respectively, and stays for dehydration averaged 1.0, 1.3, and 1.5 days. Mean per-patient institutional costs were $460.00,$310.75, and $300.00, respectively. We conclude that harmonic scalpel tonsillectomy is efficacious, practical, safe, and cost-effective, and we recommend that any institution involved with a significant number of pediatric tonsillectomies consider using it. </jats:p

Chondrosarcoma of the Larynx: A Therapeutic Challenge

The diagnosis of laryngeal chondrosarcoma is likely to be missed because of its infrequent occurrence and its indolent pattern of growth. A 53-year-old woman came to our service with an 18-year history of hoarseness and increasing dyspnea. She had been previously documented as having left vocal fold paralysis and a bulging laryngeal mass. Computed tomography revealed the presence of a large calcified tumor that had caused a deformity of the larynx and an erosion of the arytenoid and cricoid cartilages. Direct laryngoscopy detected a large supraglottic mass with a normal-appearing mucosa. Total excision of the tumor was achieved through a lateral neck incision that spared the larynx. This case emphasizes the importance of a high index of suspicion for laryngeal chondrosarcoma in a patient who has unexplained vocal fold paralysis and a submucosal subglottic mass. Every effort should be made to take a conservative surgical approach that preserves laryngeal function when possible. </jats:p