About The Medical Condition Bourneville Phakomatosis
Find the definition of the medical term Bourneville Phakomatosis. Bourneville Phakomatosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Bourneville Phakomatosis
| Bourneville Phakomatosis Medical Condition |
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What's The Definition Of The Medical Condition Bourneville Phakomatosis?
An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS; INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011)
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