title: Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy.
abstract: MPS VI (mucopolysaccharidosis VI, known as Maroteaux-Lamy syndrome) is a multi-systemic inherited disease, resulting from a deficiency of N-acetylgalactosamine-4-sulfatase, causing accumulation of the glycosaminoglycan (GAG) dermatan sulfate in all tissues. It is one of almost 50 lysosomal storage disorders. Ocular pathology is common in patients with MPS VI, with complications including ocular hypertension, progressive corneal clouding, optic nerve swelling (or papilledema) often associated with communicating hydrocephalus (Ashworth et al., Eye 20(5), 553-563, 2006; Goldberg et al., AJO 69(6), 969-975), and raised intracranial pressure (ICP) progressing to atrophy with loss of vision (Goodrich et al., Loss of vision in MPS VI is a consequence of increased intracranial pressure, 2002). This is the first case report of reversed papilledema and improved visual acuity in an 11-year-old MPS VI patient receiving galsulfase (Naglazyme), an enzyme-replacement therapy (ERT) of recombinant human arylsulfatase B (rhASB) (Harmatz et al., J Pediatr 148(4), 533-539, 2006).
authors.affiliation: Children's Hospital Oakland, 5275 Claremont Avenue, Oakland, CA 94618, USA. selimtk@yahoo.com
authors.forename: Selim T
authors.initials: ST
authors.lastname: Koseoglu
authors.forename: Paul
authors.initials: P
authors.lastname: Harmatz
authors.forename: Sean
authors.initials: S
authors.lastname: Turbeville
authors.forename: Helen
authors.initials: H
authors.lastname: Nicely
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000188:drug therapy*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use*; D010211:Papilledema / Q000209:etiology* / Q000503:physiopathology*; D016032:Randomized Controlled Trials as Topic; D011994:Recombinant Proteins / Q000627:therapeutic use; D012074:Remission Induction; D014792:Visual Acuity / Q000187:drug effects*
chemical_list: D011994:Recombinant Proteins; D020051:N-Acetylgalactosamine-4-Sulfatase; C508864:galsulfase