Fact-sheet: Tuberous sclerosis of Bourneville
Updated on 04/18/2017 at 7:11 AM
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Definition
Phakomatosis.
Hereditary disease with autosomal dominant transmission, variable penetrance.
High rate of new mutations: 60%.
Variable phenotypic expression
Clinical features
Cutaneous signs: hypomelanotic macules, facial angiofibromas, Koenen periungual fibromas, café-au-lait spots. Ophthalmologic lesions: retinal phakoma, coloboma, iris depigmentation, cataract. CNS involvement: epilepsy (West syndrome), mental retardation, behavioral disorders. Renal involvement: angiomyolipomas, cysts, cancer. Pulmonary involvement: lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia. Cardiac involvement: rhabdomyomas (children), angiomyolipomas (adults)
MRI
Cortical tubers: - location: supratentorial ++, asymmetric distribution - hypoT1, hyperT2 - possible contrast enhancement - may be calcified - spectroscopy: normal choline and NAA. Subependymal nodules: - location: lateral ventricles - isoT1, hyperT2, hypoT2* if calcified, variable enhancement after injection - size - stable over time - no hydrocephalus. Giant cell astrocytoma - location: +++ foramen of Monro ++ - hypoT1, hyperT2 and FLAIR, possible hypoT2* (calcifications), enhanced after gadolinium injection - increase in size over time (slow growth) - size >12 mm - responsible for hydrocephalus ++. White matter abnormalities - along neuronal migration pathways - hypoT1 and hyperT2 - linear