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C-2212 - Mucopolysaccharidoses type II (Hunter syndrome) – a pictorial essay

R. M. Sgarbura, C. Al-Khzouz, C. Lazea, V. A. Stetca, C. Asavoaie; Cluj Napoca/RO Type: Educational Exhibit
Area of Interests: Pediatric, CNS, Bones
Imaging Techniques: Conventional radiography, MR, Ultrasound
Procedure: Diagnostic procedure
Special Focuses: Developmental disease, Genetic defects
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Learning objectives: The aim of the present paper is to illustrate the various imaging features found in children with mucopolysaccharidoses type II (MPS II).

Background: MPS represent a group of inheritable lysosomal storage diseases characterized by enzymes deficiencies which results in accumulation of glycosaminoglycans (GAGs) in multiple body organs and tissues [1]. MPS II has an X-linked inheritance, affecting almost exclusively male subjects. The disease incl[...]

Findings and procedure details: Signs and symptoms are variable, progressive and multisystemic and include neurological deterioration, developmental delay, musculoskeletal abnormalities, cardiac and respiratory dysfunctions, liver and spleen alterations, all of which require various investigations. Therefore, conventional radiog[...]

Conclusion: Imaging techniques are essential in the diagnosis and especially the follow-up of patients with MPS II.

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References: 1. R. Parini, S.A. Jones, P.R. Harmatz, R.Giugliani, N.J.Mendelsohn, The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS), Molecular Genetics and Metabolism 117 (2016) 438–446. http://dx.doi.org/10.1016/j.ymgme.2016.01.009 2. J.D. Samet , D. Rus[...]

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