Atypical juvenile neurolipidosis. Ultrastructural study of a cerebral biopsy.
The description is given of a structural and ultrastructural aspect of a cerebral biopsy specimen collected from a 17-year-old patient, with very frequent convulsive seizures, dementia, motor aphasia and spastic tetraparesis. The disease started at the age of 9 years and evolved very slowly. The morphologic diagnosis was neurolopidosis, the ultrastructural one was atypical juvenile lipofuscinosis, the electron microscopic aspect being identical to that of another 3 cases published in the literature: highly polymorphous membranogranulovesicular cytosomes.
D000293:Adolescent; D001037:Aphasia / Q000473:pathology; D001369:Axons / Q000648:ultrastructure; D001921:Brain / Q000648:ultrastructure; D003593:Cytoplasm / Q000648:ultrastructure; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D004827:Epilepsy / Q000473:pathology; D006801:Humans; D008064:Lipidoses / Q000145:classification / Q000473:pathology*; D008062:Lipofuscin; D008297:Male; D009474:Neurons / Q000648:ultrastructure
D008062:Lipofuscin