Neuroimaging findings in Hunter disease

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F14%3A00061146" target="_blank" >RIV/00159816:_____/14:00061146 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1016/j.jns.2014.04.029" target="_blank" >http://dx.doi.org/10.1016/j.jns.2014.04.029</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jns.2014.04.029" target="_blank" >10.1016/j.jns.2014.04.029</a>

Result language
angličtina
Original language name
Neuroimaging findings in Hunter disease
Original language description
A 36 year-old man previously diagnosed with Hunter disease (Supplemental Figure; panels A & B) on the basis of biochemical and molecular genetic findings was presented with gait impairment and progressive hand weakness. Neurological examination disclosedbilateral extensor plantar responses and bilateral first interosseous and abductor pollicis brevis atrophy (Supplemental Figure; panels C & D). Brain MRI showed Virchow-Robin perivascular space enlargement, "honeycomb-like" appearance of basal ganglia and thalami, diffuse periventricular and subcortical white matter hyperintensities (Fig. 1; panels A & B). CervicalMRI disclosed cranio-cervical junctionmalformation with dens subluxation, periodontoid tissue thickening, bullet shaped vertebrae and spinalcanal stenosis (Fig. 1; panel C). Peripheral nerve sonography documented bilateral median and ulnar nerve compression at the level of carpal and cubital tunnel respectively that was confirmed by nerve conduction studies.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Project
<a href="/en/project/ED1.100%2F02%2F0123" target="_blank" >ED1.100/02/0123: St. Anne´s University Hospital Brno - International Clinical Research Center (FNUSA-ICRC)</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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