[1st juvenile case of complex neurolipidosis and neuroaxonal dystrophy involving the central nervous system].
What is apparently the first reported case of neuroaxonal dystrophy associated with juvenile neurolipidosis is described. Details of the clinical evolution and the macroscopic, microscopic, histochemical and ultrastructural anatomo-pathology are given. The topographical distributions are given of the two characteristic lesions: swelling of neuronal cell bodies and swelling of axons. Biochemical and histochemical analyses were made but since the specimen had been preserved in acetone it was not possible to identify which lipids were present in excess. The case is compared to 5 somewhat similar cases in the literature.
D000293:Adolescent; D001369:Axons / Q000648:ultrastructure*; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D003599:Cytoskeleton / Q000648:ultrastructure; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008064:Lipidoses / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D009468:Neuromuscular Diseases / Q000473:pathology; D009474:Neurons / Q000648:ultrastructure; D010523:Peripheral Nervous System Diseases / Q000473:pathology
Premier cas juvénile de neurolipidose complexe et de dystrophie neuroaxonale associée du système nerveux central.