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Case Reports
. 1975 Oct;38(10):994-9.
doi: 10.1136/jnnp.38.10.994.

An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis

M L Arsénio-Nunes, F Goutières
Case Reports

An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis

M L Arsénio-Nunes et al. J Neurol Neurosurg Psychiatry. 1975 Oct.

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.

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