title: Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis.
abstract: A patient presented with rapid developmental regression whose MRI findings suggested a leukodystrophy, but nerve, muscle, skin, and bone marrow biopsies were unrevealing. A characteristic photoparoxysmal response on electroencephalogram provided an important clue for the correct diagnosis of late infantile neuronal ceroid-lipofuscinosis, which was confirmed later with electron microscope examination of a brain biopsy. In patients with rapid neurologic deterioration, diagnosis of neuronal ceroid-lipofuscinosis should be considered and an electroencephalogram should be performed using photic stimulation to look for characteristic findings.
authors.affiliation: Department of Neurology and Pediatrics, University of North Carolina at Chapel Hill, 27599-7025, USA.
authors.forename: S Z
authors.initials: SZ
authors.lastname: Naqvi
authors.forename: R L
authors.initials: RL
authors.lastname: Beach
authors.forename: D M
authors.initials: DM
authors.lastname: Armao
authors.forename: R S
authors.initials: RS
authors.lastname: Greenwood
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000473:pathology / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000473:pathology; D010775:Photic Stimulation; D013702:Temporal Lobe / Q000473:pathology / Q000648:ultrastructure