Type:
Educational Exhibit
Keywords:
Neuroradiology brain, MR, Education, Other
Authors:
A. Taylor, M. Chew, J. Drummond
DOI:
10.26044/ranzcr2023/C-275
Background
Tuberous Sclerosis (TS) is an autosomal-dominant inherited neurocutaneous disease associated with benign hamartomas in several organs such as the brain, kidneys, skin, heart and lungs (1, 2). TS has an incidence of 1 in 6000-10,000 individuals, and is due to a inactivation in either the TSC2 or TSC1 gene (3). Inactivity of these genes results in a deficiency in the ability to form the tumour suppressor complex, mTORC1, this results in overactivation of the mTOR signaling pathway(3).
Diagnosis is made upon clinical and radiological features consisting of major and minor criteria (2, 4). Example of prevalent major features include facial angiofibromas, hypomelanotic macules, cortical tubers and subependymal nodules (1). Symptoms are varied, with the classical Vogt Triad consisting of global-delay, seizures and adenoma sebaceum, however this constellation of symptoms has variable prevalence in individuals with TS (1). Given no pathognomonic clinical manifestation exists, radiological investigation is important both for diagnosis and resultant treatment. In this pictorial essay we will summarize and showcase the CNS manifestations of TS.