Closed Meningo (encephalo) cele: a new feature in Hunter syndrome

R Manara, E Priante, M Grimaldi… - American journal …, 2012 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Hunter syndrome (MPS type II) is a rare X-linked recessive
disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency, characterized by …

Magnetic resonance imaging findings in Hunter syndrome

CT Finn, L Vedolin, IV Schwartz, R Giugliani… - Acta …, 2008 - Wiley Online Library
Hunter syndrome is a rare genetic lysosomal storage disease that is caused by a deficiency,
or absence, of iduronate‐2‐sulphatase, an enzyme needed to break down specific …

Intracranial findings of Hunter syndrome

RS Iyer, PC Khanna - Pediatric radiology, 2010 - Springer
A 13-year-old boy presented with mental retardation, progressive hearing loss and
coarsened facial features. Brain MRI demonstrated punctate and oblong CSF-equivalent …

[CITATION][C] Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome)

DI Zafeiriou, PA Augoustidou-Savvopoulou… - European Journal of …, 1998 - Elsevier
Hunter's syndrome (mucopolysaccharidosis(MPS) type II) is a rare X-linked recessive
metabolic disorder caused by deficiency in alpha-L-iduronatesulphate sulphatase.' …

Multidisciplinary management of Hunter syndrome

J Muenzer, M Beck, CM Eng, ML Escolar… - …, 2009 - publications.aap.org
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal
enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity …

Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution

R Manara, A Rampazzo, M Cananzi, L Salviati… - Journal of inherited …, 2010 - Springer
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 …

Hunter Syndrome Diagnosed by Otorhinolaryngologist

A Hashimoto, T Kumagai… - Case Reports in …, 2018 - Wiley Online Library
Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal
enzyme iduronate‐2‐sulfatase (I2S). It has an estimated incidence of approximately 1 in 1 …

[PDF][PDF] Hunter Syndrome: the phenotype of a rare storage disease

RS Martins, S Rocha, A Guimas, R Ribeiro - Cureus, 2022 - cureus.com
Hunter syndrome is a rare lysosomal storage disorder with systemic involvement that occurs
over time. Affected patients have coarse facial features, growth retardation with short stature …

[PDF][PDF] Hunter syndrome (Mucopolysaccharidosis ii)–the signs and symptoms a neurologist needs to know

H Amartino - European Neurological Review, 2015 - academia.edu
Hunter syndrome (mucopolysaccharidosis ii) is a rare X-linked lysosomal storage disease
caused by deficiency of the enzyme iduronate-2-sulfatase. The condition is one of a group of …

Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II)

VJ Parsons, DG Hughes, JE Wraith - Clinical radiology, 1996 - Elsevier
Magnetic resonance imaging (MRI) of the brain, neck and cervical spine of five patients with
the mild variant of Hunter's syndrome (iduronate sulphate sulphatase deficiency …