[Generalized ceroid-lipofuscinosis].
A histological verified case of late infantil type of generalized ceroid-lipofuscinosis of Jansky-Bielchowsky syndrome is reported. Paroxismal activity provoked by a low frequency fotostimulation or Pampiglione phenomenon is registrated at the E.E.G. An analysis about the clincial findings and a review of the Pampiglione phenomenon in the medical literature is made, being stimated this phenomenon of a high value for the diagnosis fo the type II or late infantil type of generalized ceroid-lipofuscinosis.
D002524:Cerebellar Ataxia / Q000175:diagnosis; D002675:Child, Preschool; D004569:Electroencephalography; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis*; D008297:Male; D009896:Optic Atrophy / Q000175:diagnosis; D012162:Retinal Degeneration / Q000175:diagnosis; D013577:Syndrome
Ceroido-lipofuscinosis tipo Jansky-Bielchowsky. Aportación de un nuevo caso con E.L.I. positiva a baja frecuencia en el E.E.G.