Five new cases of a recently described leukoencephalopathy with high brain lactate.
BACKGROUND
A new leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate was recently defined. The authors describe five new patients with this entity.


METHODS
Brain MRI was performed in all patients and spinal MRI and proton magnetic resonance spectroscopy (1H-MRS) in four patients. Laboratory examinations ruled out classic leukodystrophies.


RESULTS
MRI showed signal abnormalities in the periventricular and deep white matter, in the pyramidal tracts, mesencephalic trigeminal tracts, in the cerebellar connections, and in dorsal columns of the spinal cord. MRS showed decreased N-acetylaspartate and increased lactate in the white matter of all patients. In one patient choline-containing compounds were elevated. A slowly progressive sensory ataxia and tremor manifested at the age of 3 to 16 years and distal spasticity in adolescence. One 13-year-old patient was asymptomatic.


CONCLUSIONS
A slowly progressive sensory ataxia is a typical feature in this new leukodystrophy. MRS favors a primary axonal degeneration.
Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, FIN-00290 Helsinki, Finland. tarja.linnankivi@kolumbus.fi
T
T
Linnankivi
N
N
Lundbom
T
T
Autti
A-M
AM
Häkkinen
H
H
Koillinen
T
T
Kuusi
T
T
Lönnqvist
K
K
Sainio
L
L
Valanne
T
T
Aärimaa
H
H
Pihko
D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000032:analysis; D001259:Ataxia / Q000209:etiology; D001923:Brain Chemistry; D001928:Brain Diseases, Metabolic / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D001933:Brain Stem / Q000378:metabolism / Q000473:pathology; D002493:Central Nervous System Diseases / Q000150:complications / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000032:analysis; D018450:Disease Progression; D005073:Evoked Potentials, Somatosensory; D005260:Female; D005387:Finland; D005808:Genes, Recessive; D006801:Humans; D007773:Lactates / Q000032:analysis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000209:etiology; D010375:Pedigree; D012678:Sensation Disorders / Q000209:etiology; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology; D014202:Tremor / Q000209:etiology
D007773:Lactates; D001224:Aspartic Acid; C000179:N-acetylaspartate; D002794:Choline