Cerebral sponginess and GM3 gangliosidosis; ultrastructure and probable pathogenesis.
Extensive multifocal vacuolation of the cerebral hemispheres, brain stem, cerebellum, optic nerves and spinal cord were demonstrated in a 3 1/2 month-old infant. This co-existed with marked increases in cerebral and hepatic ganglioside GM3 (hematoside), absence of its higher homologues (GM1 and GM2) and absence of tissue N-acetylgalactosaminyl transferase. Ultrastructurally, there are major abnormalities in myelin and astroglia. The absence of identifiable "storage" material is believed to correlate with an enzymatic defect involved in ganglioside anabolism. A familial occurrence of this disorder is strongly suggested by the clinical history.
D001253:Astrocytes / Q000648:ultrastructure; D001921:Brain / Q000473:pathology*; D002490:Central Nervous System / Q000473:pathology; D003342:Corpus Striatum / Q000648:ultrastructure; D005646:Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase / Q000032:analysis; D005732:Gangliosides / Q000032:analysis; D005917:Globus Pallidus / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008064:Lipidoses / Q000201:enzymology / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D009186:Myelin Sheath / Q000648:ultrastructure; D013116:Spinal Cord / Q000473:pathology* / Q000648:ultrastructure; D013681:Tegmentum Mesencephali / Q000648:ultrastructure; D013702:Temporal Lobe / Q000648:ultrastructure
D005732:Gangliosides; D005646:Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase