title: Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus.
abstract: In a 19-month-old patient with mucopolysaccharidosis I (Pfaundler-Hurler, MPS I/H) high-pressure hydrocephalus required the implantation of a ventriculo-peritoneal shunt. Despite a reduction in both ventricular volume and intracranial pressure, clinical symptoms suggesting compression of the brain stem persisted. Brain MRI revealed a tumor within the posterior cranial fossa. Cytologic examination of the cerebrospinal fluid was suggestive of a poorly differentiated ependymoma. High-pressure hydrocephalus is a common complication in MPS I/H. As changes in mucopolysaccharide metabolism may be associated with an increased risk of developing neoplasms, the possibility of an intracranial tumor should be considered in patients with MPS I/H and high-pressure hydrocephalus.
authors.affiliation: Department of Pediatrics, University of Graz, Austria.
authors.forename: S
authors.initials: S
authors.lastname: Stöckler
authors.forename: R
authors.initials: R
authors.lastname: Kleinert
authors.forename: F
authors.initials: F
authors.lastname: Ebner
authors.forename: E
authors.initials: E
authors.lastname: Paschke
mesh_terms: D001932:Brain Neoplasms / Q000150:complications*; D003388:Cranial Fossa, Posterior; D004806:Ependymoma / Q000150:complications*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D007223:Infant; D008059:Mucopolysaccharidosis I / Q000150:complications*