ArticleCureus2025
Tuberous Sclerosis Due to Deletion of Exons 4-8 in TSC2 Gene, Favourably Responding to Phenytoin and Everolimus: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
A case of tuberous sclerosis (TSC) caused by a previously unreported mutation, with epilepsy responding well to phenytoin (PHT) and multilocular benign tumors regressing with everolimus, has not been documented before, to the best of our knowledge. The patient is a 24-year-old female who was diagnosed with tuberous sclerosis complex (TSC) at the age of seven due to epilepsy and the presence of multiple hamartomas, including angiofibromas, angiomyolipomas, lymphangioleiomyomas, rhabdomyomas, and astrocytomas, throughout her body. She also has a history of developmental delay, mild cognitive impairment, adjustment disorder, claustrophobia, recurrent depressive episodes, anxiety disorder, and autism spectrum disorder. Genetic testing confirmed a deletion of exons 4-8 in the
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