Bourneville Disease

《英文msh詞典》Bourneville Disease
[同義詞] Bourneville Disease
[主題詞] Tuberous Sclerosis
[中文釋義] 布爾尼維利病
[英文釋義] 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)