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Ann Neurol. 2003 Feb;53(2):252-8.

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

Author information

1
Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl

Abstract

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.

PMID:
12557294
DOI:
10.1002/ana.10456
[Indexed for MEDLINE]

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