Late-onset leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate (clinical observations)
M. I. Karpova,
A. F. Vasilenko,
D. G. Korotkova,
I. V. Kochetkov,
M. V. Shestakova,
G. V. Buyanova,
Z. Z. Zaripova https://doi.org/10.17650/2222-8721-2019-9-3-32-39
Abstract
Leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate on magnetic resonance spectroscopy is a progressive hereditary disease of the nervous system clinically characterized by pyramidal and cerebellar dysfunction, dorsal column signs and sometimes axonal neuropathy with specific neuroimaging signs of damage to the nervous system, detected by magnetic resonance imaging. This disease is caused by mutations in the DARS2 gene. The article presents an analysis of three clinical cases with the manifestation of neurological symptoms in adolescence. Clinical features and magnetic resonance imaging findings are discussed, difficulties of differential diagnosis with multiple sclerosis are presented. Genetic screening algorithms are proposed.
About the Authors
M. I. Karpova
South Ural State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
64 Vorovskogo St., Chelyabinsk 454092
A. F. Vasilenko
South Ural State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
64 Vorovskogo St., Chelyabinsk 454092
D. G. Korotkova
South Ural State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
64 Vorovskogo St., Chelyabinsk 454092
I. V. Kochetkov
South Ural State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
64 Vorovskogo St., Chelyabinsk 454092
M. V. Shestakova
South Ural State Medical University, Ministry of Health of Russia
Russian Federation
64 Vorovskogo St., Chelyabinsk 454092
Russian Federation
64 Vorovskogo St., Chelyabinsk 454092
G. V. Buyanova
Chelyabinsk Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
42a Blyukhera St., Chelyabinsk 454087
Z. Z. Zaripova
Chelyabinsk Regional Clinical Hospital
Russian Federation
Russian Federation
70 Vorovskogo St.,Chelyabinsk, 454076
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Review
For citations:
Karpova M.I., Vasilenko A.F., Korotkova D.G., Kochetkov I.V., Shestakova M.V., Buyanova G.V., Zaripova Z.Z. Late-onset leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate (clinical observations). Neuromuscular Diseases. 2019;9(3):32-39. (In Russ.) https://doi.org/10.17650/2222-8721-2019-9-3-32-39
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