CASE REPORT
Year : 2021 | Volume
: 16 | Issue : 4 | Page : 323--326
FARS2 (phenylalanyl-tRNA synthetase 2) deficiency: A novel mutation associated with EEG phenotype of epilepsy of infancy with migrating focal seizures (EIMFS)
Carlos Mario Guerrero1, Sonal Bhatia2
1 Department of Neurology, Medical University of SouthCarolina, Charleston, SC, USA
2 Department of Pediatrics, Division of Pediatric Neurology, Medical University of SouthCarolina, Charleston, SC, USA
Correspondence Address:
Dr. Sonal Bhatia
Department of Pediatrics, Division of Pediatric Neurology, Medical University of South Carolina, 125 Doughty Street, Suite 550 E, Charleston, SC 29425
USA
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for EIMFS, mutations in certain ion channels, are implicated. Similarly, phenylalanyl-tRNA synthetase 2 (FARS2) deficiency is a rare, autosomal recessive disorder of dysfunctional mitochondrial translation causing refractory seizures, lactic acidosis, and developmental regression with a variety of EEG findings. However, an EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old male with seizures where whole exome sequencing (WES) revealed pathogenic FARS2 variants and an EIMFS pattern on EEG. This case provides an insight on a novel genetic mechanism for EIMFS. We encourage early consideration of WES when EIMFS is detected to evaluate for FARS2 deficiency, especially in the setting of profound lactic acidosis.
How to cite this article:
Guerrero CM, Bhatia S. FARS2 (phenylalanyl-tRNA synthetase 2) deficiency: A novel mutation associated with EEG phenotype of epilepsy of infancy with migrating focal seizures (EIMFS).J Pediatr Neurosci 2021;16:323-326
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How to cite this URL:
Guerrero CM, Bhatia S. FARS2 (phenylalanyl-tRNA synthetase 2) deficiency: A novel mutation associated with EEG phenotype of epilepsy of infancy with migrating focal seizures (EIMFS). J Pediatr Neurosci [serial online] 2021 [cited 2023 Dec 1 ];16:323-326
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2021;volume=16;issue=4;spage=323;epage=326;aulast=Guerrero;type=0 |
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