1/3. The cherry-red spot in Tay-Sachs and other storage diseases.The disappearance of the cherry-red spot in an otherwise typical patient with tay-sachs disease is described and illustrated. This clinical observation has rarely been made, but it is consistent with the pathological finding of loss of retinal ganglion cells. Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the sialidoses known as the cherry-red spot-myoclonus syndrome and the Goldberg syndrome, and Niemann-Pick, type C disease. Thus the absence of a cherry-red spot in the neurologically impaired child or adult does not exclude these diagnoses.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
2/3. gangliosidoses and the fetal retina.Abnormal membranous cytoplasmic inclusions were found in the retinal ganglion cells of two fetuses with gangliosidosis. One was a documented case of incipient tay-sachs disease (Gm2) and the other a case of generalized gangliosidosis (Gm1). Both specimens were obtained iatrogenically in the 20th to 21st week of gestation after amniocentesis had indicated the enzyme deficiency.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
3/3. Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical tay-sachs disease (type B GM2 gangliosidosis).Two juvenile sibling male Muntjak deer (Muntiacus muntjak) with histories of depression, ataxia, circling and visual deficits were studied. cerebrospinal fluid analyses revealed vacuolated macrophages that contained long parallel needle-like intracytoplasmic inclusions. light microscopically, nerve cell bodies throughout the brain, ganglion cells within the retina and neurons in the myenteric plexuses were variably swollen and had pale granular to finely vacuolated eosinophilic cytoplasm. Neuronal cytoplasm stained specifically with sudan black and Luxolfast blue stains. Within the brain there were occasional axonal spheroids, foci of astrogliosis and scattered microglial cells with abundant pale foamy cytoplasm. Electron microscopy of the brain and retina revealed numerous neurons and ganglion cells, respectively, with multiple membrane-bound structures that contained compact electron-dense membranous whorls and fewer parallel membranous stacks. Thin layer chromatography of total lipid extracts of the cerebral cortex of both cases revealed massive accumulation of G(M2) ganglioside. Crude kidney extracts of the two affected deer were able to hydrolyze 4-methylumbelliferyl beta-GlcNAc, but not 4-methylumbelliferyl beta-GlcNAc-6-sulfate, indicating the defect of beta-hexosaminidase a. Cellogel electrophoresis of the kidney extracts also revealed the deficiency of beta-hexosaminidase a in the two deer. It is concluded that these two deer had the biochemical lesion identical to that of human type B G(M2) gangliosidosis (classical tay-sachs disease).- - - - - - - - - - ranking = 2keywords = ganglion (Clic here for more details about this article) |