title: Regression of ventriculomegaly following medical management of a patient with Hurler syndrome.
abstract: Hurler syndrome is the most severe form of mucopolysaccharidosis (MPS) Type 1. Progressive neurocognitive decline in this condition can be accompanied by macrocephaly, ventriculomegaly, and/or periventricular signal changes on MRI, which often leads to a neurosurgical referral. In this case, the authors describe a 2-year-old boy with ventriculomegaly and periventricular T2 signal changes, both of which decreased following medical management of Hurler syndrome. The authors discuss the possible mechanisms for this finding and the implications for neurosurgical treatment of this condition.
authors.affiliation: Faculty of Medicine and the Division of Neurosurgery, University of British Columbia and British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Liang
authors.affiliation: Faculty of Medicine and the Division of Neurosurgery, University of British Columbia and British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.
authors.forename: Ash
authors.initials: A
authors.lastname: Singhal
mesh_terms: D002657:Child Development; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D007068:Iduronidase / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D009048:Motor Skills; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000188:drug therapy* / Q000503:physiopathology; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D007068:Iduronidase
keywords: ERT = enzyme replacement therapy; GAG = glycosaminoglycan; HSCT = hematopoietic stem cell transplant; Hurler syndrome; MPS = mucopolysaccharidosis; congenital; mucopolysaccharidosis Type 1; pediatric neurosurgery; ventriculomegaly