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.
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: firstname.lastname@example.org.
Please include this information when citing this paper: published online January 11, 2013; DOI: 10.3171/2012.11.PEDS11419.
AliabadiHReynoldsRPowersCJGrantGFuchsHKurtzbergJ: Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery67:1476–14822010
KandasamyJKneenRGladstoneMNewmanWMohamedTMallucciC: Chiari I malformation without hydrocephalus: acute intracranial hypertension managed with endoscopic third ventriculostomy (ETV). Childs Nerv Syst24:1493–14972008
MassimiLPravatàETamburriniGGaudinoSPettoriniBNovegnoF: Endoscopic third ventriculostomy for the management of Chiari I and related hydrocephalus: outcome and pathogenetic implications. Neurosurgery68:950–9562011
VougioukasVIBerlisAKoppMVKorinthenbergRSpreerJvan VelthovenV: Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg35:35–382001