| Author | Rojas, Maria Verónica Muñoz | |
| Author | Horovitz, Dafne Dain Gandelman | |
| Author | Jardim, Laura Bannach | |
| Author | Raymundo, Marcia | |
| Author | Llerena Junior, Juan Clinton | |
| Author | Magalhães, Tatiana de Sá Carneiro Pacheco de | |
| Author | Vieira, Taiane Alves | |
| Author | Kakkis, Emil | |
| Author | Giugliani, Roberto | |
| Access date | 2013-07-17T19:07:42Z | |
| Available date | 2013-07-17T19:07:42Z | |
| Document date | 2010 | |
| Citation | MUÑOZ-ROJAS, María Verónica et al. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol. genet. metab., Orlando, v. 99, n. 4, p. 346-350, apr. 2010. | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/6701 | |
| Language | eng | pt_BR |
| Publisher | Academic Press | pt_BR |
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| Rights | restricted access | |
| Title | Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis | pt_BR |
| Type | Article | |
| DOI | 10.1016/j.ymgme.2009.11.008 | |
| Abstract | In mucopolysaccharidosis VI, or Maroteaux-Lamy syndrome, deficiency of N-acetylgalactosamine 4-sulfatase leads to storage of glycosaminoglycans (GAGs) and MPS VI patients often develop spinal cord compression during the course of the disease due to GAG storage within the cervical meninges, requiring neurosurgical intervention, as intravenous (IV) enzyme replacement therapy (ERT) is not expected to cross the blood-brain barrier. We report the use of intrathecal (IT) recombinant human N-acetylgalactosamine 4-sulfatase (arylsulfatase B, or ASB) in a MPS VI child with spinal cord compression whose parents initially refused the surgical treatment. Assessments were performed at baseline, with clinical, neurological and biochemical evaluations, urodynamic studies and MRI of the CNS. Changes on these parameters were evaluated after IT infusions of ASB administered monthly via lumbar puncture (LP) in a IV ERT naive patient. To our knowledge, this was the first MPS VI patient who received IT ERT. Despite significant urodynamic improvement and some neurological amelioration, the patient developed worsening of walking capacity. After IV ERT was started, the patient presented with a generalized hypotonia and a life-saving surgical fixation of the neck was then performed. The results observed on this MPS VI patient suggest that instability of the cervical vertebrae could be unmasked by IV ERT as joint storage is reduced, and the decrease in neck stiffness and stability could confound the expected improvement of SCC manifestations following IT ERT. The study of further patients, if possible in a clinical trial setting, is needed to evaluate the potential of a non-surgical IT ERT treatment of SCC for MPS VI. | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Porto Alegre, RS, Brasil / Genzyme do Brasil. Departamento Médico. São Paulo, SP, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Hospital de Clínicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Medicina Interna. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Porto Alegre, RS, Brasil / Genzyme do Brasil. Departamento Médico. São Paulo, SP, Brasil / | pt_BR |
| Affilliation | Hospital de Clínicas. Grupo de Pesquisa e Pós-Graduação. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Hospital de Clínicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | Hospital de Clínicas. Serviço de Anestesiologia. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | BioMarin Pharmaceutical Inc., Novato, CA, USA | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil | pt_BR |
| Subject | Pachymeningitis Cervicalis | pt_BR |
| Subject | Mucopolysaccharidosis VI | pt_BR |
| Subject | Maroteaux–Lamy Syndrome | pt_BR |
| Subject | Spinal Cord Compression | pt_BR |
| Subject | Intrathecal Drug Administration | pt_BR |
| Subject | Enzyme Replacement Therapy | pt_BR |
| DeCS | Meningite - complicações | pt_BR |
| DeCS | Mucopolissacaridose VI - quimioterapia | pt_BR |
| DeCS | N-Acetilgalactosamina-4-Sulfatase - administração & dosagem | pt_BR |
| DeCS | Compressão da Medula Espinal | pt_BR |
