A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
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.
van der Knaap
Marjo S
MS
Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl
van der Voorn
Patrick
P
Barkhof
Frederik
F
Van Coster
Rudy
R
Krägeloh-Mann
Ingeborg
I
Feigenbaum
Annette
A
Blaser
Susan
S
Vles
Johan S H
JS
Rieckmann
Peter
P
Pouwels
Petra J W
PJ
D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000145:classification / Q000473:pathology*; D001933:Brain Stem / Q000737:chemistry / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000032:analysis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009412:Nerve Fibers / Q000473:pathology; D013116:Spinal Cord / Q000737:chemistry / Q000473:pathology*
D019344:Lactic Acid