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 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.
Naqvi
S Z
SZ
Department of Neurology and Pediatrics, University of North Carolina at Chapel Hill, 27599-7025, USA.
Beach
R L
RL
Armao
D M
DM
Greenwood
R S
RS
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