eprintid: 10087946
rev_number: 20
eprint_status: archive
userid: 608
dir: disk0/10/08/79/46
datestamp: 2019-12-13 13:57:34
lastmod: 2022-01-17 23:54:14
status_changed: 2019-12-13 13:57:34
type: article
metadata_visibility: show
creators_name: Ismayilova, N
creators_name: Hacohen, Y
creators_name: MacKinnon, AD
creators_name: Elmslie, F
creators_name: Clarke, A
title: GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F87
keywords: GLUT1 deficiency, Leukoencephalopathy, Ketogenic diet
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: 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 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels. A pathogenic de novo heterozygous mutation in SLC2A1 (c.275+1G > A) confirmed the diagnosis of GLUT1 deficiency. Ketogenic diet resulted in a dramatic termination of his seizures at 72 h. At 15 months, he continued to be seizure free with marked developmental catch up. Repeat imaging revealed a significant resolution of the previously seen changes. This case suggests that GLUT1 deficiency should be considered in the differential diagnosis of infants with suspected genetic leukoencephalopathies with important treatment implications.
date: 2018-11
date_type: published
publisher: ELSEVIER SCI LTD
official_url: https://doi.org/10.1016/j.ejpn.2018.02.002
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1698021
doi: 10.1016/j.ejpn.2018.02.002
lyricists_name: Hacohen, Yael
lyricists_id: YHACO24
actors_name: Allington-Smith, Dominic
actors_id: DAALL44
actors_role: owner
full_text_status: public
publication: European Journal of Paediatric Neurology
volume: 22
number: 6
pagerange: 1161-1164
pages: 4
citation:        Ismayilova, N;    Hacohen, Y;    MacKinnon, AD;    Elmslie, F;    Clarke, A;      (2018)    GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.                   European Journal of Paediatric Neurology , 22  (6)   pp. 1161-1164.    10.1016/j.ejpn.2018.02.002 <https://doi.org/10.1016/j.ejpn.2018.02.002>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10087946/3/Hacohen_Ismayilova%20et%20al.%20Neurology%20%28submitted%29.pdf