ArticleJournal of inherited metabolic disease2014
Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Neurosurgical manifestations and management of mucopolysaccharidoses: A systematic review.Neurosurgical review · 2026Pooled it
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.Frontiers in cardiovascular medicine · 2022Review
- Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.Biomolecules · 2021Review
- Best practice guidelines for management of spinal disorders in skeletal dysplasia.Orphanet journal of rare diseases · 2020Article
- Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses.International journal of molecular sciences · 2020Review
- Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.Orphanet journal of rare diseases · 2019Review
- Spine challenges in mucopolysaccharidosis.International orthopaedics · 2019Review
- Orthopaedic challenges for mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Mucopolysaccharidoses: overview of neuroimaging manifestations.Pediatric radiology · 2018Review
- Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses?Journal of children's orthopaedics · 2017Article
- Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Molecular genetics and metabolism · 2016Review
- Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.Orphanet journal of rare diseases · 2016Article
- A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome.Journal of orthopaedic case reportsArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMucopolysaccharidosis (MPS) I is a rare autosomal recessive lysosomal storage disease. Thoracolumbar kyphosis is an early characteristic feature of the disease. Ossification failure in the anterosuperior quadrant of the vertebral body results in anterior dislocation. This study describes the surgical management of thoracolumbar kyphosis in MPS IH (Hurler syndrome) in a national reference center.
methodsAmong 72 MPS I patients followed in our institution, we treated surgically 14 MPS IH patients with severe thoracolumbar kyphosis. The decision was made after documented deformity progression. Mean age at surgery was 8 (3.5-15) years. Sagittal imbalance of the trunk was constant. One patient underwent extended fusion for associated scoliosis. We retrospectively reviewed 13 patients who underwent selective circumferential fusion at the thoracolumbar level.
resultsAverage preoperative kyphosis was +57.5°(+30°; +90°). Surgical correction of the kyphosis was about 66 % and maintained at final follow-up. Fusion was obtained in all patients. Two patients required revision surgery consecutively to a previous posterior-only fusion, as a significant loss of correction occurred. One patient presented delayed neurologic deficit secondarily to cardiac embolism. One patient died postoperatively from cardiorespiratory failure.
conclusionSurgery is necessary when kyphosis is progressive despite orthopedic management, aggravating the multifactorial trunk imbalance. Regarding our experience, circumferential arthrodesis should be recommended to achieve stable correction. Surgical management requires a multidisciplinary approach due to multisystemic failure and neurological risks specific to metabolic disorders.
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