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Published in: Clinical Neuroradiology 3/2014

01-09-2014 | Correspondence

A Case with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Elevated Lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings

Authors: H. Alibas, MD, P. K. Koytak, G. Ekinci, K. Uluc

Published in: Clinical Neuroradiology | Issue 3/2014

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Excerpt

Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a recently described white matter disorder, characterized by slowly progressive cerebellar, pyramidal, and dorsal column dysfunction [1]. It is a very rare autosomal recessive mitochondrial disease; however, its unique pattern of magnetic resonance imaging (MRI) findings distinguishes it from the other leukoencephalopathies and is therefore pathognomonic [18]. Distinct MRI findings of nonhomogeneous cerebral white matter abnormalities with selective involvement of the brainstem and spinal cord and specific magnetic resonance spectroscopy (MRS) abnormalities are the striking neuroradiological features of the disease. We herein report a case of LBSL. …
Literature
1.
go back to reference Van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003;53:252–8. Van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003;53:252–8.
2.
3.
go back to reference Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, Van der Knaap MS. Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate: a genetically proven case with distinct MRI findings. J Neurol Sci. 2008;273:118–22.PubMedCrossRef Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, Van der Knaap MS. Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate: a genetically proven case with distinct MRI findings. J Neurol Sci. 2008;273:118–22.PubMedCrossRef
4.
go back to reference Linnankivi T, Lundbom N, Autti T, Häkkinen AM, Koillinen H, Kuusi T, Lönnqvist T, Sainio K, Valanne L, Aärimaa T, Pihko H. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology. 2004;63:688–92.PubMedCrossRef Linnankivi T, Lundbom N, Autti T, Häkkinen AM, Koillinen H, Kuusi T, Lönnqvist T, Sainio K, Valanne L, Aärimaa T, Pihko H. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology. 2004;63:688–92.PubMedCrossRef
5.
go back to reference Galluzzi P, Sacchini M, Bartalini G, Monti L, Cerase A, Lamatea E, et al. LBSL (leukoencephalopathy with brainstem and spinal cord involvement and high lactate) without sparing the u-fibers and globi pallidi: a case report. EJREX. 2011;79:73–6. Galluzzi P, Sacchini M, Bartalini G, Monti L, Cerase A, Lamatea E, et al. LBSL (leukoencephalopathy with brainstem and spinal cord involvement and high lactate) without sparing the u-fibers and globi pallidi: a case report. EJREX. 2011;79:73–6.
6.
go back to reference Labauge P, Roullet E, Boespflug-Tanguy O, Nicoli F, Le Fur Y, Cozzone PJ, Ducreux D, Rodriguez D. Familial, adult onset form of leukoencephalopathy with brainstem and spinal cord involvement: inconstant high brain lactate and very slow disease progression. Eur Neurol. 2007;58:59–61.PubMedCrossRef Labauge P, Roullet E, Boespflug-Tanguy O, Nicoli F, Le Fur Y, Cozzone PJ, Ducreux D, Rodriguez D. Familial, adult onset form of leukoencephalopathy with brainstem and spinal cord involvement: inconstant high brain lactate and very slow disease progression. Eur Neurol. 2007;58:59–61.PubMedCrossRef
7.
go back to reference Moore SA, Kumar N, Gavrilova RH. Leukoencephalopathy with brainstem and spinal cord involvement (and high lactate): raising the bar for diagnosis. J Neurol. 2012;259:2494–97.PubMedCrossRef Moore SA, Kumar N, Gavrilova RH. Leukoencephalopathy with brainstem and spinal cord involvement (and high lactate): raising the bar for diagnosis. J Neurol. 2012;259:2494–97.PubMedCrossRef
8.
go back to reference Steenweg ME, Pouwels PJ, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain. 2011;134:3333–41.PubMedCrossRef Steenweg ME, Pouwels PJ, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain. 2011;134:3333–41.PubMedCrossRef
9.
go back to reference Scheper GC, van der Klok T, van Andel RJ, van Berkel CGM, Sissler M, Smet J, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007;39:534–39.PubMedCrossRef Scheper GC, van der Klok T, van Andel RJ, van Berkel CGM, Sissler M, Smet J, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007;39:534–39.PubMedCrossRef
10.
go back to reference Steenweg ME, van Berge L, van Berkel CGM, de Coo IFM, Temple IK, Brockmann K, et al. Early-onset LBSL: how severe does it get? Neuropediatrics. 2012;43:332–38.PubMedCrossRef Steenweg ME, van Berge L, van Berkel CGM, de Coo IFM, Temple IK, Brockmann K, et al. Early-onset LBSL: how severe does it get? Neuropediatrics. 2012;43:332–38.PubMedCrossRef
Metadata
Title
A Case with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Elevated Lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings
Authors
H. Alibas, MD
P. K. Koytak
G. Ekinci
K. Uluc
Publication date
01-09-2014
Publisher
Springer Berlin Heidelberg
Published in
Clinical Neuroradiology / Issue 3/2014
Print ISSN: 1869-1439
Electronic ISSN: 1869-1447
DOI
https://doi.org/10.1007/s00062-013-0250-x

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