Document Detail

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
MedLine Citation:
PMID:  20036175     Owner:  NLM     Status:  MEDLINE    
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.
María Verónica Muñoz-Rojas; Dafne Dain Gandelman Horovitz; Laura Bannach Jardim; Marcia Raymundo; Juan Clinton Llerena; Tatiana de Sá Carneiro Pacheco de Magalhães; Taiane Alves Vieira; Ronaldo Costa; Emil Kakkis; Roberto Giugliani
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-12-05
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  99     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-03-15     Completed Date:  2010-07-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  346-50     Citation Subset:  IM    
Copyright Information:
Copyright 2009 Elsevier Inc. All rights reserved.
Post Graduation Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil.
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MeSH Terms
Injections, Spinal
Meningitis / complications*
Mucopolysaccharidosis VI / drug therapy*
N-Acetylgalactosamine-4-Sulfatase / administration & dosage*
Recombinant Proteins / administration & dosage
Spinal Cord Compression
Reg. No./Substance:
0/Recombinant Proteins; EC; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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