title: Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
abstract: Mucopolysaccharidosis type II (MPS-II, Hunter disease) is a X-linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS-II brain magnetic resonance imaging (MRI) "gestalt" in males, but neuroradiological reports on females are still lacking. We present an 11-year-old girl affected by the severe form of MPS-II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase™, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS-II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified.
authors.affiliation: Neuroradiologic Unit, University Hospital of Padova, Via Giustiniani 2, Padova 35128, Italy. renzo.manara@sanita.padova.it
authors.forename: Renzo
authors.initials: R
authors.lastname: Manara
authors.forename: Angelica
authors.initials: A
authors.lastname: Rampazzo
authors.forename: Mara
authors.initials: M
authors.lastname: Cananzi
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Rodica
authors.initials: R
authors.lastname: Mardari
authors.forename: Paola
authors.initials: P
authors.lastname: Drigo
authors.forename: Rosella
authors.initials: R
authors.lastname: Tomanin
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Gasparotto
authors.forename: Elena
authors.initials: E
authors.lastname: Priante
authors.forename: Maurizio
authors.initials: M
authors.lastname: Scarpa
mesh_terms: D001284:Atrophy; D001921:Brain / Q000187:drug effects* / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D002648:Child; D003071:Cognition; D003072:Cognition Disorders / Q000235:genetics / Q000523:psychology; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use*; D056784:Leukoencephalopathies / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D012720:Severity of Illness Index; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D006023:Glycoproteins; C018322:IDS protein, human; D007066:Iduronate Sulfatase; C517982:idursulfase