Neurophysiology and MRI in late-infantile metachromatic leukodystrophy

We present serial clinical, radiologic, and neurophysiologic findings of a patient with late-infantile meta-chromatic leukodystrophy who was first adm itted at 30 months of age because of gait disturbance. The neurologic findi ngs were consistent with mild spastic diplegia (occasionally with toe walki ng). Magnetic resonance imaging disclosed diffuse high intensity in the cer ebral white matter on T-2-weighted images. Nerve conduction velocity studie s and evoked-potential studies were markedly abnormal, Assay of arylsulfata se A activity in leukocyte culture disclosed a marked deficiency of the enz yme, confirming the diagnosis of late-infantile metachromatic leukodystroph y, Serial neurophysiologic studies demonstrated a marked decrease of nerve conduction velocities, both motor and sensory, as web as prolongation or di sappearance of brainstem auditory-, visual-, and somatosensory-evoked poten tial latencies. Magnetic resonance imaging studies revealed initially diffu se increased signal intensity of periventricular and subcortical white matt er on T-2-weighted images, progressing to cortical atrophy with involvement of the arcuate fibers and the cerebellar white matter, correlating with th e clinical deterioration (severe spastic tetraplegia with optic atrophy and epilepsy), (C) 1999 by Elsevier Science Inc. All rights reserved.