MRI appearance of Sturge-Weber syndrome in tuberous sclerosis complex: is the neural crest the culprit?
Several neurocutaneous syndromes have been reported in association with tuberous sclerosis complex. The coexistence of intracranial features of Sturge-Weber syndrome in patients with a confirmed diagnosis of tuberous sclerosis complex has been recently described. Several hypotheses can be raised to explain this association. The coexistence of signs of both diseases in the same patient could be explained by abnormal neural crest development, and by mutually enhanced common altered pathways. Mutation characterization of tuberous sclerosis complex and a better definition of the clinical and neuroimaging phenotypes could offer a crucial contribution to the etiopathogenetic mechanisms of these disorders.
Curatolo
Paolo
P
D001921:Brain / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D009389:Neovascularization, Pathologic; D009432:Neural Crest / Q000196:embryology*; D013341:Sturge-Weber Syndrome / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins