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| Tuberous sclerosis |
| Etiology •Tuberous sclerosis is a phacomatosis (disease that affects brain, skin and other organs) that an autosomal dominant, inherited with high penetrance. |
| Pathogenesis /see etiology., |
| Epidemiology •The prevalance of tuberous sclerosis is 1 in 10,000 children ages 0-5. |
| General Gross Description •The brains of most tuberous sclerosis patients show tubers (hard, potato-like nodules in gyri) of the cerebral cortex and candle gutterings (irregular calcified nodules) in the lateral, third and fourth ventricles. •The face often shows angiofibromas on the cheeks and forehead, the heart may have rhabdomyomas and the kidneys may show cysts or angiomyolipomas. |
| General Microscopic Description •Microscopically the tuber is disorganized and contains large pyramidal like cells that have both neural and glial staining on immunoperioxidase as well as reactive gliosis. •Candlegutterings contain similar cells which are most commanly glial in origin. •The candleguttering may develop giant cell astrocytomas which are very slow growing but may cause death because they are difficult to remove. |
| Clinical Correlation •Patients with tuberous sclerosis often have seizures and mental retardation. •May develop hydrocephalus due to the growth of the giant cell astrocytoma or blindness due to growth of giant cell astrocytomas in the eye. •Organs with other growths may also show symptoms. •The skin usually shows hypomelanotic patches. |
| References • Greenfield's Neuropathology, 6th ed. Graham DI, Lantos PL (ed), New York: Arnold, 1997, pp. 497-502. • Cotran RS, Kumar V, Robbins SL: Robbins Pathologic Basis of Disease. 5th ed. Philadelphia, W.B. Saunders, 1994, pp. 1354. |
| Tuberous sclerosis |
| Synopsis by: Dr ML Grunnet (TX2000M20000)[526] |
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