[Neuronal ceroid-lipofuscinosis. Diagnosis by skin biopsy. Physiopathology (author's transl)].
Authors report a case of Batten's disease (neuronal ceroid-lipofuscinosis), in its late infantile form (Jansky-Bielschowsky), so as the ability to identify the process by ultrastructural study of the skin.
D002524:Cerebellar Ataxia / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000473:pathology*; D009896:Optic Atrophy / Q000473:pathology; D012162:Retinal Degeneration / Q000473:pathology*; D012867:Skin / Q000473:pathology*; D013577:Syndrome
Ceroidolipofuscinosis neuronal. Diagnóstico por biopsia cutánea. Fisiopatología.