Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy

Case report

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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.

Article Information

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.

© AANS, except where prohibited by US copyright law.



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    Sagittal T2-weighted MR image showing obstruction of the outlets from the fourth ventricle and hydrocephalus in association with cord compression at the craniocervical transition.

  • View in gallery

    Endoscopic view from the floor of the third ventricle showing a thick membrane in front of mammillary bodies.

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    Sagittal T2-weighted MR image obtained 6 months after surgery, showing radiological improvement in craniocervical transition with no blockage in the fourth ventricle.



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