Hope Northrup

All articles by Hope Northrup

Tuberous Sclerosis Complex (Bourneville Disease, Bourneville Phakomatosis)

Are You Confident of the Diagnosis? What you should be alert for in the history Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition characterized by hypomelanotic macules (Figure 1), hamartomas, and intellectual disability in 50% of those affected, as well as infantile spasms and/or seizure disorder in approximately 80% of affected individuals. Figure…

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