Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus.
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.
Stöckler
S
S
Department of Pediatrics, University of Graz, Austria.
Kleinert
R
R
Ebner
F
F
Paschke
E
E
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*