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| Tay Sachs Disease |
| Etiology • Mutations in alpha-subunit locus of hexosaminidase located on chromosome A. • Autosomal recessive. |
| Pathogenesis • Accumulation of GM2 gangliosides within all cells. • Neural damage in which the overstuffed neurons eventually die dominates the clinical picture., |
| Epidemiology • Most common form of GM2 gangliosidosis. • Carrier rate of 1/30 Ashkenazic Jews |
| General Gross Description • The brain is generally heavier than normal. • It is much tougher than normal. |
| General Microscopic Description • GM2 glanglioside accumulates everywhere. • Neurons filled with distended lysosomes forming vacuoles. • Fat stains positive. • Electron microscopy shows concentric membranes stuffed inside lysosomes. • Results in necrosis of neurons with "scarring" with microglia. |
| Clinical Correlation • Developmental retardation beginning in infancy. • Dementia, paralysis, and death by age 2-3. • Gray white area in retina foveolis surrounds a cherry-red spot which is classic funduscopic finding. |
| References • Cotran RS, Kumar V, Robbins SL: Robbins Pathologic Basis of Disease. 5th ed. Philadelphia, W.B. Saunders, 1994, pp. 139-141. |
| Tay Sachs Disease |
| Synopsis by: Melinda Sanders M.D. (TX7410D14530)[612] |
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