PMID: 11322445Apr 27, 2001Paper

Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Neurosurgery
J A ThorneR A Cowie

Abstract

The craniovertebral abnormalities found in patients with Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) are described, and the indications for and outcomes of surgery in this group are assessed. The clinical histories and radiological findings in all patients with Type VI mucopolysaccharidosis treated at Royal Manchester Children's Hospital during the past 10 years were reviewed. The typical findings in patients with this disease are of canal stenosis at the level of the foramen magnum and upper cervical spine with or without cord compression. The stenosis is secondary to thickening of the posterior longitudinal ligament. Atlantoaxial instability is rare. Of nine patients under regular clinical review, four underwent decompressive surgery for cervical cord compression. Three of the four showed improvement in their neurological symptoms and signs postoperatively. Of the children reviewed, six had radiological evidence of cord compression, although only those with neurological signs or symptoms were treated surgically. Despite the often formidable anesthetic challenge, surgery is indicated in those patients who present with progressive neurological deficit due to cervical myelopathy. Surgery can be undertaken safely if t...Continue Reading

Citations

Jan 23, 2008·Der Orthopäde·B LinkA Meurer
May 11, 2004·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·R Shane TubbsJeffrey P Blount
Mar 24, 2012·Journal of Inherited Metabolic Disease·Anke ThümlerEugen Mengel
Nov 28, 2012·Journal of Inherited Metabolic Disease·Ana C M AzevedoIda Vanessa D Schwartz
Dec 1, 2012·Journal of Inherited Metabolic Disease·Robert WalkerBarbara Valdemarsson
Mar 19, 2011·Journal of Inherited Metabolic Disease·Marleen H van der LindenRené M Castelein
Aug 27, 2013·Brain & Development·Felippe BorlotChong Ae Kim
Oct 10, 2015·Journal of Inherited Metabolic Disease·Berendine J EbbinkAns T van der Ploeg
Apr 16, 2016·The Indian Journal of Radiology & Imaging·Nishchint JainSurya N Bhaskar
Oct 21, 2015·The Spine Journal : Official Journal of the North American Spine Society·Daniel HansenAndrew Jea
Sep 15, 2005·Journal of Magnetic Resonance Imaging : JMRI·Pedro Gutiérrez CarbonellJavier Roca Vicente-Franqueira
Apr 13, 2005·Clinical Neurology and Neurosurgery·Melike MutNejat Akalan
Aug 5, 2011·Molecular Genetics and Metabolism·Dafne Dain Gandelman HorovitzJuan Clinton Llerena
Nov 2, 2014·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Antonio LeoneCesare Colosimo
Feb 3, 2009·The Journal of Bone and Joint Surgery. American Volume·Klane K WhiteScott J Mubarak
May 4, 2018·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Moema Ferreira Dos ReisLuiz Carlos Santana da Silva
Aug 25, 2004·Clinical Genetics·A C M M AzevedoR Giugliani
Sep 15, 2006·Pediatrics International : Official Journal of the Japan Pediatric Society·Nur ArslanHatice Durak
Jan 11, 2012·Rheumatology·Klane K White
Jul 14, 2012·AJNR. American Journal of Neuroradiology·D I Zafeiriou, S P Batzios

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.