Abstract
A Japanese girl with peculiar leukoencephalopathy was reported. Following normal development
until 1 year of age, she showed progressive neurological deterioration with ataxia,
epilepsy, pyramidal tract signs and choreic movement. Serial brain computed tomographies
(CTs) revealed markedly low density and progressive volume loss in whole white matter.
In extensive laboratory investigations, the level of glycine in the urine was elevated.
She died at the age of 4 years, and the neuropathological findings were comprised
of severe extensive changes in cerebral and cerebellar white matter, such as marked
rarefaction or cystic degeneration with axonal loss. The pontine central tegmental
tracts were also affected. Neuronal loss was seen in the cerebellar cortex. These
features were compatible with leukoencephalopathy with vanishing white matter, which
was recently established as a clinical entity. To our knowledge, this is the first
report of a non-Caucasian patient with this new type of leukoencephalopathy.
Keywords
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Article info
Publication history
Accepted:
December 6,
2000
Received in revised form:
December 6,
2000
Received:
July 7,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
