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
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