Literature DB >> 146740

Hunter syndrome presenting as macrocephaly and hydrocephalus.

S Yatziv, C J Epstein.   

Abstract

A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.

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Year:  1977        PMID： 146740      PMCID： PMC1013642          DOI： 10.1136/jmg.14.6.445

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  The effects of hydrocephalus on intelligence, visual perception and school attainment.

Authors:  B Tew; K M Laurence
Journal:  Dev Med Child Neurol Suppl       Date:  1975

2.  Corrective factors for inborn errors of mucopolysaccharide metabolism.

Authors:  E F Neufeld; M J Cantz
Journal:  Ann N Y Acad Sci       Date:  1971-07-06       Impact factor: 5.691

Review 3.  Inherited disorders of lysosomal metabolism.

Authors:  E F Neufeld; T W Lim; L J Shapiro
Journal:  Annu Rev Biochem       Date:  1975       Impact factor: 23.643

4.  Communicating hydrocephalus in children with genetic inborn errors of metabolism.

Authors:  G W Fowler; M Sukoff; A Hamilton; J P Williams
Journal:  Childs Brain       Date:  1975

5.  Mild and severe Hunter syndrome (MPS II) within the same sibships.

Authors:  S Yatziv; R P Erickson; C J Epstein
Journal:  Clin Genet       Date:  1977-05       Impact factor: 4.438
  5 in total
  4 in total

1.  Hydrocephalus and pseudotumour cerebri in the mucopolysaccharidoses.

Authors:  M Sheridan; I Johnston
Journal:  Childs Nerv Syst       Date:  1994-04       Impact factor: 1.475

Review 2.  Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.

Authors:  S Al Sawaf; E Mayatepek; B Hoffmann
Journal:  J Inherit Metab Dis       Date:  2008-07-13       Impact factor: 4.982

3.  The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.

Authors:  Joseph Muenzer; Olaf Bodamer; Barbara Burton; Lorne Clarke; Gudrun Schulze Frenking; Roberto Giugliani; Simon Jones; Maria Verónica Muñoz Rojas; Maurizio Scarpa; Michael Beck; Paul Harmatz
Journal:  Eur J Pediatr       Date:  2011-10-29       Impact factor: 3.183

4.  Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Authors:  Maurizio Scarpa; Zsuzsanna Almássy; Michael Beck; Olaf Bodamer; Iain A Bruce; Linda De Meirleir; Nathalie Guffon; Encarna Guillén-Navarro; Pauline Hensman; Simon Jones; Wolfgang Kamin; Christoph Kampmann; Christina Lampe; Christine A Lavery; Elisa Leão Teles; Bianca Link; Allan M Lund; Gunilla Malm; Susanne Pitz; Michael Rothera; Catherine Stewart; Anna Tylki-Szymańska; Ans van der Ploeg; Robert Walker; Jiri Zeman; James E Wraith
Journal:  Orphanet J Rare Dis       Date:  2011-11-07       Impact factor: 4.123
  4 in total

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