Hemimegalencephaly is a rare malformation of cortical development characterised by enlargement of one cerebral hemisphere. The association between hemimegalencephaly and tuberous sclerosis complex, an autosomal dominant genetic disorder, is uncommon and has so far been reported only in a few cases. Intractable epilepsy and severe developmental delay are typical clinical manifestations. Aberrant activation of the mTOR signalling pathway is considered to be the hallmark of the pathogenesis of these two disorders. Thus, mTOR inhibitors such as everolimus represent a promising therapeutic approach to mTOR-associated manifestations. We present a thorough literature review of the association between hemimegaloencephaly and tuberous sclerosis complex.

中文翻译：

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半巨脑症和结节性硬化症：一种罕见但具有挑战性的关联。

半巨脑畸形是一种罕见的皮质发育畸形，其特征是一个大脑半球的增大。半巨脑症与结节性硬化症（一种常染色体显性遗传疾病）之间的关联并不常见，迄今为止仅在少数病例中报道过。顽固性癫痫和严重的发育迟缓是典型的临床表现。mTOR 信号通路的异常激活被认为是这两种疾病发病机制的标志。因此，mTOR 抑制剂如依维莫司代表了一种有前途的治疗 mTOR 相关表现的方法。我们对半巨脑畸形和结节性硬化症之间的关联进行了全面的文献综述。