S. Sugama et K. Kusano, A SPORADIC CASE OF VERY SLOW PROGRESSIVE LEUKODYSTROPHY INVOLVING THECEREBELLAR PEDUNCLES, Brain & development, 17(4), 1995, pp. 280-282
We describe a patient with infantile onset leukodystrophy involving th
e cerebellar peduncles, She had mild mental retardation, spastic diple
gia and mild cerebellar ataxia, The peripheral nerves seemed to be nor
mal, The characteristic MRI findings in this case were extensive lesio
ns of the white matter involving the cerebellar peduncles. In addition
there was ventricular enlargement with a markedly decreased volume of
the white matter and a hypoplastic corpus callosum, The clinical and
laboratory findings imply that the white matter lesions in this patien
t were the result of delayed myelination rather than demyelination. Th
e patient was evaluated for known metabolic and degenerative diseases,
but no abnormalities were observed. Her symptoms and neuroimaging fin
dings did not fit the criteria for any defined leukodystrophy.