An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis.
Open Access
- 1 October 1975
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 38 (10) , 994-999
- https://doi.org/10.1136/jnnp.38.10.994
Abstract
A skin biopsy was carried out in two children suffering from early infantile (Santavuori) and late infantile (Jansky-Bielschowsky) types of ceroid-lipofuscinosis. In both cases cytoplasmic inclusions, identical with those found in neurones, were present in the skin. Skin biopsy thus appears as a simple technique for the diagnosis of the ceroid-lipofuscinoses.Keywords
This publication has 12 references indexed in Scilit:
- CYTOPLASMIC INCLUSIONS IN THE VERMIFORM APPENDIX AND SKELETAL MUSCLE IN TWO TYPES OF SO-CALLED NEURONAL CEROID-LIPOFUSCINOSISBrain, 1973
- Infantile type of so-called neuronal ceroid-lipofuscinosisJournal of the Neurological Sciences, 1973
- Infantile type of so-called neuronal ceroid-lipofuscinosisActa Neuropathologica, 1973
- Involvement of Sural Nerve in Neuronal Ceroid-Lipofuscinoses: Report of Two CasesNeuropediatrics, 1973
- Skin Biopsy as a Contribution to Diagnosis in Late Infantile Amaurotic Idiocy with Curvilinear BodiesEuropean Neurology, 1973
- A type of juvenile cerebromacular degeneration characterized by granular osmiophilic depositsJournal of the Neurological Sciences, 1973
- Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocyNeurology, 1972
- Ultrastructural studies in late-onset amauroticidiocy: Lymphocyte inclusions as a diagnostic markerThe Journal of Pediatrics, 1971
- On the natural history of late infantile cerebromacular degenerationNeurology, 1966
- Visceral involvement in juvenile amaurotic idiocyActa Neuropathologica, 1965