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Article

GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2018

Ismayilova Naila, Hacohen Yael, MacKinnon Andrew D, Elmslie Frances, Clarke Antonia

Abstract excerpt

Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2...

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Share to Carbohydrate Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30115503
DOI: 10.1016/j.ejpn.2018.02.002

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