Axo-dendritic abnormalities in a case of juvenile neuronal storage disease.
Axonal enlargements (meganeurites) and dendritic degeneration were found in the pyramidal neurons from the frontal cortex of a patient with juvenile neuronal storage disease studied with the aid of ultrastructural and Golgi methods. Meganeurites appeared as enlargements at the axon hillock-initial segment area and were similar to those described in other neuronal diseases; dendritic degeneration was heavy and appeared throughout the cell domain. These neuropile changes can be related to the precocious mental abnormalities observed in this group of diseases which depend on a storage phenomenon due to a lysosomal enzyme deficiency.
D000293:Adolescent; D001369:Axons / Q000648:ultrastructure*; D002540:Cerebral Cortex / Q000648:ultrastructure*; D003712:Dendrites / Q000648:ultrastructure*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008064:Lipidoses / Q000473:pathology*; D008297:Male; D009410:Nerve Degeneration; D009474:Neurons / Q000648:ultrastructure; D009940:Organoids / Q000648:ultrastructure