An ultramicroscopic study of the skin in the diagnosis of the  infantile and late infantile types of ceroid-lipofuscinosis.
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.
D001706:Biopsy; D002524:Cerebellar Ataxia / Q000175:diagnosis; D002540:Cerebral Cortex / Q000648:ultrastructure; D002675:Child, Preschool; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008064:Lipidoses / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D009457:Neuroglia / Q000648:ultrastructure; D009896:Optic Atrophy / Q000175:diagnosis; D012162:Retinal Degeneration / Q000175:diagnosis; D012867:Skin / Q000648:ultrastructure; D013577:Syndrome