[Generalized ceroid-lipofuscinosis]
- PMID: 426389
[Generalized ceroid-lipofuscinosis]
Abstract
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.
Similar articles
-
An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis.J Neurol Neurosurg Psychiatry. 1975 Oct;38(10):994-9. doi: 10.1136/jnnp.38.10.994. J Neurol Neurosurg Psychiatry. 1975. PMID: 172610 Free PMC article.
-
[Neuronal ceroid-lipofuscinosis. Diagnosis by skin biopsy. Physiopathology (author's transl)].An Esp Pediatr. 1979 Apr;12(4):323-8. An Esp Pediatr. 1979. PMID: 464406 Spanish.
-
Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.J Neurol Neurosurg Psychiatry. 1975 Oct;38(10):985-93. doi: 10.1136/jnnp.38.10.985. J Neurol Neurosurg Psychiatry. 1975. PMID: 172609 Free PMC article.
-
Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview.Mol Genet Metab. 1999 Apr;66(4):356-66. doi: 10.1006/mgme.1999.2829. Mol Genet Metab. 1999. PMID: 10191129 Review.
-
Pediatric neurology.Prog Neurol Psychiatry. 1969;24:241-54. Prog Neurol Psychiatry. 1969. PMID: 4244101 Review. No abstract available.