Belgian Journal of Paediatrics
Early infantile epileptic encephalopathy: unique characteristics on brain MRI leading towards diagnosis of SLC13A5 gene mutation. Case report and literature review
Vol. 24 No. 2 (2022), Case reports
Vol. 24 No. 2 (2022)

Early infantile epileptic encephalopathy: unique characteristics on brain MRI leading towards diagnosis of SLC13A5 gene mutation. Case report and literature review

Case reports
Published 2022-07-12 — Updated on 2023-01-17
Delphine Dinneweth
Department of Paediatrics, University Hospital Ghent, Ghent, Belgium
Pauline Snijder
Department of Paediatrics, subdivision of Neonatology Erasmus MC Sophia Children’s hospital, Rotterdam, the Netherlands
Cynthia van der Starre
Department of Paediatrics, subdivision of Neonatology Erasmus MC Sophia Children’s hospital, Rotterdam, the Netherlands
Daniëlla Roofthooft
Department of Paediatrics, subdivision of Neonatology Erasmus MC Sophia Children’s hospital, Rotterdam, the Netherlands
Liesbeth Smit
Department of Paediatrics, subdivision of Neonatology and Department of Neurology, subdivision of Paediatric Neurology, Erasmus MC Sophia Children’s hospital, Rotterdam, the Netherlands

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Keywords

epileptic encephalopathy
neonata
SLC13A5 gene mutation
punctuate white matter lesions
case report

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How to Cite

Dinneweth, D., Snijder, P., van der Starre, C., Roofthooft, D., & Smit, L. (2023). Early infantile epileptic encephalopathy: unique characteristics on brain MRI leading towards diagnosis of SLC13A5 gene mutation. Case report and literature review. Belgian Journal of Paediatrics, 24(2), 128–131. Retrieved from http://belgjpaediatrics.com/index.php/bjp/article/view/78 (Original work published July 12, 2022)
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Abstract

Developmental and epileptic encephalopathy is a severe condition characterized by frequent, drug-resistant seizures and developmental delay. The aetiology is diverse but genetic causes are mostly discovered. Clinically it is a variable condition with different degrees of psychomotor or cognitive delay. One type of infantile epilepsy is believed to be caused by a biallelic mutation in the SLC13A5 gene, which codes for a cytoplasmic sodium-dependent citrate carrier that is primarily expressed in neurons. The gene mutation has been recognised in infants with punctate white matter lesions on brain magnetic resonance imaging (MRI) who do not have a history of hypoxic-ischemic encephalopathy.

 

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