A sporadic case of very slow progressive leukodystrophy involving the cerebellar peduncles

We describe a patient with infantile onset leukodystrophy involving the cerebellar peduncles. She had mild mental retardation, spastic diplegia and mild cerebellar ataxia. The peripheral nerves seemed to be normal. The characteristic MRI findings in this case were extensive lesions 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 patient were the result of delayed myelination rather than demyelination. The patient was evaluated for known metabolic and degenerative diseases, but no abnormalities were observed. Her symptoms and neuroimaging findings did not fit the criteria for any defined le UKodystrophy.