Abstract
The aim of this report is to present a unique case of hemimegalencephaly and concomitant tuberous sclerosis complex (TSC1 mutation) with severe neonatal-onset epilepsy, which successfully underwent an anatomical hemispherectomy at 6.5 weeks of age for refractory seizures. Genetic testing confirmed a rare pathogenic, sporadic, heterozygous c.2041 + 1G > A gene mutation in intron 16 of the TSC1 gene, diagnostic for tuberous sclerosis. Post-operatively, the infant remained seizure free for at least 1 year. Following recurrence of her seizures, she has continued on multiple anti-seizure medications and everolimus therapy. We review the pathological and molecular features of this condition and highlight the ethics of intervention and steps taken toward safe neurosurgical intervention in this very young infant.
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References
Sarnat HB, Flores-Sarnat L (2015) Infantile tauopathies: hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. Brain Dev 37:553–562
Sakuma H, Iwata O, Sasaki M (2005) Longitudinal MR findings in a patient with hemimegalencephaly associated with tuberous sclerosis. Brain Dev 27:458–461
Parmar H, Patkar D, Shah J, Patankar T (2003) Hemimegalencephaly with tuberous sclerosis: a longitudinal imaging study. Australas Radiol 47:438–442
Griffiths PD, Gardner SA, Smith M, Rittey C, Powell T (1998) Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. AJNR Am J Neuroradiol 19:1935–1938
Cartwright MS, McCarthy SC, Roach ES (2005) Hemimegalencephaly and tuberous sclerosis complex. Neurology 64:1634
Roth J, Constantini S, Ekstein M et al (2021) Epilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: a multicenter, multinational study. Epilepsia 62:1897–1906
Cuddapah VA, Thompson M, Blount J, Li R, Guleria S, Goyal M (2015) Hemispherectomy for hemimegalencephaly due to tuberous sclerosis and a review of the literature. Pediatr Neurol 53:452–455
Guerra MP, Cavalleri F, Migone N et al (2007) Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex. J Child Neurol 22:80–84
Curatolo P, Moavero R (2013) mTOR inhibitors as a new therapeutic option for epilepsy. Expert Rev Neurother 13:627–638
Citraro R, Leo A, Constanti A, Russo E, De Sarro G (2016) mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. Pharmacol Res 107:333–343
Jeong A, Wong M (2018) Targeting the mammalian target of rapamycin for epileptic encephalopathies and malformations of cortical development. J Child Neurol 33:55–63
Acknowledgements
We give special thanks to the patient’s family for granting permission to participate in this case report, which has been reviewed and approved by the University of Manitoba Health Research Ethics Board.
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Serletis, D., MacDonald, C., Xu, Q. et al. Hemispherectomy for hemimegalencephaly in a 6.5-week-old infant with tuberous sclerosis complex. Childs Nerv Syst 38, 1415–1419 (2022). https://doi.org/10.1007/s00381-021-05431-1
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DOI: https://doi.org/10.1007/s00381-021-05431-1