Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) on Magnetic Resonance Spectroscopy: A Clinical Observation

Cover Page

Cite item

Full Text


Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) on magnetic resonance spectroscopy is a rare and little-known form of hereditary leukoencephalopathy, a significant portion of which is probably obscured by the label of primary progressive multiple sclerosis. The article presents a clinical case of an adult form of LBSL and a review of the literature on this disease, discusses the particular pyramidal syndrome lesions in LBSL and multiple sclerosis, and presents the MRI criteria for LBSL. The difficulty in differential diagnosis with Krabbe disease is highlighted. Clinical observation confirms the difficulty of diagnosing LBSL and the lack of medical awareness about this disease.

About the authors

Alexander Yu. Kazantsev

Kazan State Medical University

Author for correspondence.
Email: engine90@bk.ru
Russian Federation, Kazan

Tatiana V. Matveeva

Kazan State Medical University

Email: engine90@bk.ru
Russian Federation, Kazan


  1. Van der Knaap M.S., van der Voorn P., Barkhof F. et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2002; 53: 252–258. doi: 10.1002/ana.10456. PMID: 12557294.
  2. Laura van Berge L., Dooves S., van Berkel C.G. et al. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. Biochem J 2012; 441: 955–962. doi: 10.1042/BJ20110795. PMID: 22023289.
  3. Sauter C., Lorber B., Gaudry A. et al. Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures. Sci Rep 2015; 5: 17332. doi: 10.1038/srep17332. PMID: 26620921.
  4. Guzeva V.I., Efet E.A., Nikolaeva O.M. [Leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate with MR spectroscopy (clinical observation)]. Neyrokhirurgiya i nevrologiya detskogo vozrasta 2012; 1(13): 16–22. (In Russ.)
  5. Isohanni P., Linnankivi T., Buzkova J. et al. DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis. J Med Genet 2010; 47: 66–70. doi: 10.1136/jmg.2009.068221. PMID: 19592391.
  6. Mikhailova S.V., Zakharova E.Yu., Banin A.V. et al. [Clinical manifestations and molecular genetic diagnosis of leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate in children]. Klinika nervnykh i psikhicheskikh zabolevaniy 2009; 9: 16–22. (In Russ.)
  7. Moroz A.A., Nuzhny E.P., Seliverstov Yu.A. et al. [A rare form of leukoencephalopathy associated with the DARS2 gene: Russian experience]. Nevrologicheskiy zhurnal 2018; 23(2): 71–77. DOI: http://dx.doi.org/10.18821/1560-9545-2018-23-2-71-77. (In Russ.)
  8. van Berge L., Hamilton E.M.C., Linnankivi T. et al. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain 2014; 137(Pt 4): 1019–1029. doi: 10.1093/brain/awu026. PMID: 24566671.
  9. Petzold G.C., Bohner G., Klingebiel R. et al. Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 2006; 77: 889–891. doi: 10.1136/jnnp.2005.079798. PMID: 16788018.
  10. Steenweg M.E., van Berge L., van Berkel C.G.M. et al. Early-onset LBSL: how severe does it get? Neuropediatrics 2012; 43: 332–338. doi: 10.1055/s-0032-1329395. PMID: 23065766.
  11. Lynch D.S., Rodrigues Brandão de Paiva A., Zhang W.J. et al. Clinical and genetic characterization of leukoencephalopathies in adults. Brain 2017; 140: 1204–1211. doi: 10.1093/brain/awx045. PMID: 28334938.
  12. Matveeva T.V., Ibatullin M.M., Khafizova I.F. [Clinical and visualization features of the differential diagnosis of multiple sclerosis]. Мoscow, 2013. (In Russ.)
  13. Lan M.Y., Chang Y.Y., Yeh T.H. et al. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. J Neurol Sci 2017; 372: 229–231. doi: 10.1016/j.jns.2016.11.058. PMID: 28017220.
  14. Jones B.V., Barron T.F., Towfighi J. Optic nerve enlargement in Krabbe’s disease. Am J Neuroradiol 1999; 20:1228–1231. PMID: 10472976.
  15. Rabab Debs, Froissart R., Aubourg P. et al. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis 2013; 36: 859–868. doi: 10.1007/s10545-012-9560-4. PMID: 23197103.

Supplementary files

Supplementary Files

Copyright (c) 2020 Kazantsev A.Y., Matveeva T.V.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77-83204 от 12.05.2022.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies