BOURNEVILLE PHAKOMATOSIS
\bˈɔːnɪvˌɪl fˌakəmɐtˈə͡ʊsɪs], \bˈɔːnɪvˌɪl fˌakəmɐtˈəʊsɪs], \b_ˈɔː_n_ɪ_v_ˌɪ_l f_ˌa_k_ə_m_ɐ_t_ˈəʊ_s_ɪ_s]\
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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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Dopamine Acetyltransferase
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Nearby Words
- bourne
- bourne shell
- bournebasic
- bourneville disease
- bourneville phacomatosis
- Bourneville Phakomatosis
- bournless
- bournonite
- bournous
- bournouse
- bourrans