Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy

Case report

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  • 1 Department of Neurosurgery, Universidade Potiguar;
  • 2 Division of Neurosurgery, Hospital Infantil Varela, Santiago; and
  • 3 Hosped, Federal University of Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
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Mucopolysaccharidosis (MPS) Type VI, or Maroteaux-Lamy syndrome, is characterized by a deficiency of the enzyme arylsulfatase B (ASB). In patients with this disorder, craniocervical compression, carpal tunnel syndrome, and communicating hydrocephalus are common. Traditionally, hydrocephalus occurring in patients with MPS VI has been treated with shunt placements. Considering obstruction of the outlets from the fourth ventricle at the craniocervical transition, the authors decided to treat a female patient with MPS VI via endoscopic third ventriculostomy. She was 12 years old and had refractory headaches. This seems to be the first reported instance of the neuroendoscopic treatment of hydrocephalus in a patient with MPS VI. The pathophysiology is briefly discussed.

Abbreviations used in this paper:ASB = arylsulfatase B; GAG = glycosaminoglycan; MPS VI = mucopolysaccharidosis Type VI.

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Contributor Notes

Address correspondence to: Ângelo Raimundo da Silva Neto, M.D., M.Sc., Department of Neurosurgery, Avenue Deodoro da Fonseca 498, 59065-600 Natal, Rio Grande do Norte, Brazil. email: angelorsn@gmail.com.

Please include this information when citing this paper: published online January 11, 2013; DOI: 10.3171/2012.11.PEDS11419.

  • 1

    Aliabadi H, , Reynolds R, , Powers CJ, , Grant G, , Fuchs H, & Kurtzberg J: Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery 67:14761482, 2010

    • Search Google Scholar
    • Export Citation
  • 2

    Choux M, , Genitori L, , Lang D, & Lena G: Shunt implantation: reducing the incidence of shunt infection. J Neurosurg 77:875880, 1992

  • 3

    Cinalli G, , Spennato P, , Ruggiero C, , Aliberti F, , Trischitta V, & Buonocore MC, : Complications following endoscopic intracranial procedures in children. Childs Nerv Syst 23:633644, 2007

    • Search Google Scholar
    • Export Citation
  • 4

    Erşahin Y, & Arslan D: Complications of endoscopic third ventriculostomy. Childs Nerv Syst 24:943948, 2008

  • 5

    Giugliani R, , Harmatz P, & Wraith JE: Management guidelines for mucopolysaccharidosis VI. Pediatrics 120:405418, 2007

  • 6

    Jenkinson MD, , Hayhurst C, , Al-Jumaily M, , Kandasamy J, , Clark S, & Mallucci CL: The role of endoscopic third ventriculostomy in adult patients with hydrocephalus. Clinical article. J Neurosurg 110:861866, 2009

    • Search Google Scholar
    • Export Citation
  • 7

    Kadrian D, , van Gelder J, , Florida D, , Jones R, , Vonau M, & Teo C, : Long-term reliability of endoscopic third ventriculostomy. Neurosurgery 62:Suppl 2 614621, 2008

    • Search Google Scholar
    • Export Citation
  • 8

    Kandasamy J, , Kneen R, , Gladstone M, , Newman W, , Mohamed T, & Mallucci C: Chiari I malformation without hydrocephalus: acute intracranial hypertension managed with endoscopic third ventriculostomy (ETV). Childs Nerv Syst 24:14931497, 2008

    • Search Google Scholar
    • Export Citation
  • 9

    Kawaguchi T, , Fujimura M, & Tominaga T: Syringomyelia with obstructive hydrocephalus at the foramens of Luschka and Magendie successfully treated by endoscopic third ventriculostomy. Surg Neurol 71:349352, 2009

    • Search Google Scholar
    • Export Citation
  • 10

    Koseoglu ST, , Harmatz P, , Turbeville S, & Nicely H: Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy. Int Ophthalmol 29:267269, 2009

    • Search Google Scholar
    • Export Citation
  • 11

    Massimi L, , Pravatà E, , Tamburrini G, , Gaudino S, , Pettorini B, & Novegno F, : Endoscopic third ventriculostomy for the management of Chiari I and related hydrocephalus: outcome and pathogenetic implications. Neurosurgery 68:950956, 2011

    • Search Google Scholar
    • Export Citation
  • 12

    Maroteaux P, , Leveque B, , Marie J, & Lamy M: [A new dysostosis with urinary elimination of chondroitin sulfate B.]. Presse Med 71:18491852, 1963. (Fr)

    • Search Google Scholar
    • Export Citation
  • 13

    Schwartz GP, & Cohen EJ: Hydrocephalus in Maroteaux-Lamy syndrome. Arch Ophthalmol 116:400, 1998. (Letter)

  • 14

    Valayannopoulos V, , Nicely H, , Harmatz P, & Turbeville S: Mucopolysaccharidosis VI. Orphanet J Rare Dis 5:5, 2010

  • 15

    Vedolin L, , Schwartz IV, , Komlos M, , Schuch A, , Puga AC, & Pinto LLC, : Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol 28:10291033, 2007

    • Search Google Scholar
    • Export Citation
  • 16

    Vougioukas VI, , Berlis A, , Kopp MV, , Korinthenberg R, , Spreer J, & van Velthoven V: Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg 35:3538, 2001

    • Search Google Scholar
    • Export Citation

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