Krabbe disease with juvenile onset: A case report
https://doi.org/ 10.25557/2073-7998.2018.12.59-63
Abstract
We present the first clinical observation of a 23 years old patient with a juvenile form of Krabbe disease in Russia. We also review current knowledge on the etiology, pathogenesis, clinical manifestations, and management of the Krabbe disease with late onset in general. Challenges in differential diagnosis are discussed, particularly in the cases with Krabbe disease manifestation after one year of age.
About the Authors
E. P. Nuzhnyi
Research Center of Neurology
Russian Federation
Russian Federation
R. N. Konovalov
Research Center of Neurology
Russian Federation
Russian Federation
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. Y. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. N. Illarioshkin
Research Center of Neurology
Russian Federation
Russian Federation
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Review
For citations:
Nuzhnyi E.P., Konovalov R.N., Rudenskaya G.E., Zakharova E.Y., Illarioshkin S.N. Krabbe disease with juvenile onset: A case report. Medical Genetics. 2018;17(12):59-63. (In Russ.) https://doi.org/ 10.25557/2073-7998.2018.12.59-63
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