Tuberculous sclerosis (Burneville disease): case report and modern aspects of diagnosis

Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal dominant orphan disease belonging to the group of phakomatoses. Morphologically, TSC is characterized by systemic hamartomas. This article presents a case of a patient diagnosed with TSC at the age of 24 according to the 2021 International TSC Clinical Consensus criteria. The diagnosis of TSC was established by the presence of more than three hypomelanotic macules, multiple cortical tubers and radial migration lines, and more than two subependymal nodules. This case report provides an overview of the epidemiology, clinical features, and diff erential diagnosis of TSC. Furthermore, it discusses the actual diagnostic criteria, including the value of fi nding genetic variants of unknown signifi cance in the diagnosis of TSC.

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