A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

M.S. van der Knaap, P. van der Voorn, F. Barkhof, R. van Coster, I. Krageloh-Mann, A. Feigenbaum, S. Blaser, J.S.H. Vles, P. Rieckmann, P.J. Pouwels

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Abstract

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ.

Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl

We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely
Original languageEnglish
Pages (from-to)252-258
Number of pages6
JournalAnnals of Neurology
Volume53
Issue number2
DOIs
Publication statusPublished - 1 Jan 2003

Cite this

van der Knaap, M. S., van der Voorn, P., Barkhof, F., van Coster, R., Krageloh-Mann, I., Feigenbaum, A., Blaser, S., Vles, J. S. H., Rieckmann, P., & Pouwels, P. J. (2003). A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Annals of Neurology, 53(2), 252-258. https://doi.org/10.1002/ana.10456