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Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports Cover

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 1 (June 2016)
By: E Vargiami,  E Papathanasiou,  S Batzios,  M Kyriazi,  E Dimitriou,  A Anastasiou,  H Michelakakis,  A-K Giese and  DI Zafeiriou  
Open Access
|Aug 2016

Figures & Tables

Brain MRI of the first patient at the age of 3.5 months (T2 weighted sequences TR/TE 4000/99). Note the mildly increased signal in the posterior limbs of the internal capsule bilaterally and in the white matter of the occipital lobe.
Brain MRI of the first patient at the age of 3.5 months (T2 weighted sequences TR/TE 4000/99). Note the mildly increased signal in the posterior limbs of the internal capsule bilaterally and in the white matter of the occipital lobe.
Brain MRI of second patient at the age of 18 months (T2 weighted sequences TR/TE 4510/119). Note the increased signal in the periventicular white matter around the occipital horns of the lateral ventricles with enlargement of both lateral ventricles and the subarachnoid spaces.
Brain MRI of second patient at the age of 18 months (T2 weighted sequences TR/TE 4510/119). Note the increased signal in the periventicular white matter around the occipital horns of the lateral ventricles with enlargement of both lateral ventricles and the subarachnoid spaces.

Nerve conduction velocities in both patients_

Nerve Conduction Velocities (m/s)
Age When ExaminedMedianNerveUlnarNerveTibialNervePeronealNerveSuralNerve
Patient 14 months28.225.021.418.733.2
Normal values for 1-6 months33.335.035.038.840.6
Patient 218 months30.231.829.234.629.4
Normal values for 1-2 years53.652.250.251.453.0
DOI: https://doi.org/10.1515/bjmg-2016-0011 | Journal eISSN: 2199-5761
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Language: English
Page range: 85 - 90
Published on: Aug 2, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
β-galactocerebrosidase (β-GALC),
GALC gene,
Krabbe disease,
Leukodystrophy,
Mutation,
Nerve conduction velocity (NCV)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 E Vargiami, E Papathanasiou, S Batzios, M Kyriazi, E Dimitriou, A Anastasiou, H Michelakakis, A-K Giese, DI Zafeiriou, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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