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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维加巴特林对伴难治性局灶性癫痫持续状态的II型局灶性皮质发育不良的疗效，怀疑与mTOR抑制有关

局灶性皮质发育不良（FCD） II型是一组皮质发育畸形（MCD），是大脑异常增生的结果。目前，FCD II被归类为由突变导致mTOR通路异常过度激活引起的mtor病。它与半巨脑畸形（HME）和结节性硬化症（TSC）属于同一亚类。我们描述了一个顽固性局灶性癫痫持续状态的儿童和FCD II型的脑MRI特征，他对通常的抗癫痫药物（ASMs）没有反应，但在开始服用维加巴林后表现出显著的反应。Vigabatrin是一种抗癫痫药物，治疗婴儿痉挛和难治性局灶性癫痫在TSC中有很高的反应率。结论维加巴特林是治疗与TSC具有相同病理和分子异常的FCD型难治性癫痫的一种有前景的精准治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Brain and Development Case Reports

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