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
