Vigabatrin efficacy in focal cortical dysplasia type II with refractory focal status epilepticus, suspected role of mTOR inhibition

Brain and Development Case Reports Pub Date : 2024-12-13 DOI:10.1016/j.bdcasr.2024.100055

Safoura Kowkabi , Zahra Rezaei , Reza Kaboodkhani , Parvin Ghaemmaghami , Mohammad Kaboodkhani

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Abstract

Background

Focal cortical dysplasia (FCD) type II is a group of malformation of cortical development (MCD) which is the result of abnormal proliferation in the brain. Nowadays, FCD II is classified as mTORopathies caused by mutations leading to abnormal hyperactivation of the mTOR pathway. It locates in the same subcategory as hemimegalencephaly (HME) and tuberous sclerosis complex (TSC).

Case presentation

We describe a child with refractory focal status epilepticus and brain MRI features of FCD type II, who did not respond to the usual anti-seizure medications (ASMs) but showed a dramatic response after initiation of vigabatrin. Vigabatrin is an anti-seizure medication with a high response rate for the treatment of infantile spasms and refractory focal epilepsy in TSC.

Conclusion

We concluded that vigabatrin could be a promising precision therapy for refractory epilepsy of FCD type II, which has the same pathologic and molecular abnormalities as TSC.

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Brain and Development Case Reports

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