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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

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.

Table 1

Nerve conduction velocities in both patients.

Nerve Conduction Velocities (m/s)
Age When ExaminedMedian
Nerve
Ulnar
Nerve
Tibial
Nerve
Peroneal
Nerve
Sural
Nerve
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

Normal values (represent the lower normal limit [mean ± 2 standard deviation (SD)] for NCV at the age of 4 months in our laboratory.

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.

DOI: https://doi.org/10.1515/bjmg-2016-0011 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 85 - 90
Published online: Aug 2, 2016
Published in print: Jun 1, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services

© 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.