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Five new cases of a recently described leukoencephalopathy with high brain lactate

From the Department of Pediatric Neurology, Hospital for Children and Adolescents (Drs. Linnankivi, Lönnqvist, and Pihko), Helsinki Medical Imaging Center (Drs. Lundbom, Autti, and Valanne, and T. Kuusi), and Department of Clinical Neurophysiology (Dr. Sainio), University of Helsinki; Department of Oncology (Dr. Häkkinen), Helsinki University Central Hospital; and Department of Pediatric Neurology (Drs. Koillinen and Äärimaa), University of Turku, Finland.

Address correspondence and reprint requests to Dr. Tarja Linnankivi, Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, FIN-00290 Helsinki, Finland; e-mail: tarja.linnankivi{at}kolumbus.fi

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.

Received January 20, 2004. Accepted in final form May 3, 2004.

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