Generalized ceroid-lipofuscinosis
López Martín, V.; Martínez Bermejo, A.; Pascual Castroviejo, I.
Anales Espanoles de Pediatria 12(2): 131-136
1979
ISSN/ISBN: 0302-4342 PMID: 426389 Document Number: 148743
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.