| Tuberous sclerosis
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Etiology
•Tuberous sclerosis is a phacomatosis (disease that affects brain,
skin and other organs) that an autosomal dominant,
inherited with high penetrance.
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Pathogenesis
/see etiology.,
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Epidemiology
•The prevalance of tuberous sclerosis is 1 in 10,000
children ages 0-5.
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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.
•Examples:
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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.
•Examples:
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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.
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| Tuberous sclerosis
| | Synopsis by: Dr ML Grunnet (TX2000M20000)[526]
| |