Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association

• Published in: European journal of paediatric neurology Vol. 30; pp. 58 - 65
• Main Authors: Sidira, Christina, Vargiami, Efthymia, Dragoumi, Pinelopi, Zafeiriou, Dimitrios I.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.01.2021
• Subjects: Everolimus; Hemimegalencephaly; Malformations of cortical development; mTOR inhibitors; Tuberous sclerosis complex; Hemimegalencephaly; mTOR inhibitors; Everolimus; Tuberous sclerosis complex; Malformations of cortical development
• ISSN: 1090-3798; 1532-2130; 1532-2130
• DOI: 10.1016/j.ejpn.2020.12.007

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. •TSC can be rarely associated with malformations of cortical development such as HME.•Ongoing surveillance of patients with HME for features of TSC is highly recommended.•Everolimus could be a potential therapeutic approach in mTORopathies with drug-resistant epilepsy and neurodevelopmental regression.