Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association. (January 2021)

• Record Type: Journal Article
• Authors: Sidira, Christina; Vargiami, Efthymia; Dragoumi, Pinelopi; Zafeiriou, Dimitrios I.
• Is Part Of: European journal of paediatric neurology. Volume 30(2021)
• Page Start: 58
• Page End: 65
• Publication Date: 2021-01
• Subjects: Tuberous sclerosis complex -- Hemimegalencephaly -- mTOR inhibitors -- Everolimus -- Malformations of cortical development; Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2020.12.007
• Languages: English
• ISSNs: 1090-3798

Abstract

Abstract: 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. Highlights: 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.