[Atypical juvenile neurolipidosis. Ultrastructural study of a cerebral biopsy].
Electron-microscopic findings on a brain biopsy in a 9-year-old male affected by juvenile lipidosis are reported. Two types of neuronal cytosomes were discribed: lamellar concentric bodies, resembling membranous cytoplasmic bodies, and polymorphous complex bodies, unit membrane bound including various material, mostly resembling lipofuscin. The same storage was found in glial and endothelial cells. Neurochemical data failed to pin-point any specific abnormalities. The present case cannot be classified in the category of neuronal ceroid-lipofuscinosis but seems similar to certain reported cases of atypicalneurolipidosis.
D001853:Bone Marrow / Q000473:pathology*; D001856:Bone Marrow Examination; D001923:Brain Chemistry; D001927:Brain Diseases / Q000145:classification / Q000473:pathology*; D002540:Cerebral Cortex / Q000648:ultrastructure*; D002648:Child; D002855:Chromatography, Thin Layer; D005625:Frontal Lobe / Q000648:ultrastructure; D005732:Gangliosides / Q000032:analysis; D006801:Humans; D002479:Inclusion Bodies / Q000032:analysis / Q000648:ultrastructure; D007806:Language Disorders / Q000209:etiology; D008064:Lipidoses / Q000145:classification / Q000150:complications / Q000473:pathology*; D008055:Lipids / Q000032:analysis; D008297:Male; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D010743:Phospholipids / Q000032:analysis; D012640:Seizures / Q000209:etiology
D005732:Gangliosides; D008055:Lipids; D010743:Phospholipids
Neurolipidose juvénile atypique. Etude ultrastructurale d'une biopsie cérébrale