Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis

A patient presented with rapid developmental regression whose MRI findings suggested a leukodystrophy, but nerve, muscle, skin, and bone marrow biopsi es were unrevealing. A characteristic photoparoxysmal response on electroen cephalogram provided an important clue for the correct diagnosis of late in fantile neuronal ceroid-lipofuscinosis, which was confirmed later with elec tron microscope examination of a brain biopsy. In patients with rapid neuro logic deterioration, diagnosis of neuronal ceroid-lipofuscinosis should be considered and an electroencephalogram should be performed using photic sti mulation to look for characteristic findings. (C) 1998 by Elsevier Science Inc. All rights reserved.