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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
De Vivo disease. GLUT-1 deficiency syndrome: A case report
Archives de Pediatrie, Volume 21, No. 3, Year 2014
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Description
GLUT-1 deficiency syndrome is a rare genetic disease where the specific glucose transporter through the brain barrier is deficient. GLUT-1 deficiency causes an array of symptoms that may vary considerably from one patient to another. Signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. We report a case of an infant who presented myoclonic events often occurring prior to meals, associated with developmental delay. The diagnosis was made before the discovery of hypoglycorrhachia associated with normal plasma glucose, proven biochemically by DNA analysis. Treatment with a ketogenic diet proved to be successful in controlling the epilepsy. © 2014 Elsevier Masson SAS.
Authors & Co-Authors
Daoudi, Smail
Algeria, Tizi Ouzou
Centre Hospitalo-universitaire Nedir Mohamed - Tizi Ouzou
Lounis, M.
Algeria, Tizi Ouzou
Centre Hospitalo-universitaire Nedir Mohamed - Tizi Ouzou
Chibout, S.
Algeria, Tizi Ouzou
Centre Hospitalo-universitaire Nedir Mohamed - Tizi Ouzou
Bensaadi, Nadia
Algeria, Tizi Ouzou
Centre Hospitalo-universitaire Nedir Mohamed - Tizi Ouzou
Ait-kaci-Ahmed, M.
Algeria, Algiers
Etablissement Hospitalier Spécialisé Ali Ait Idir
Statistics
Citations: 5
Authors: 5
Affiliations: 2
Identifiers
Doi:
10.1016/j.arcped.2013.12.015
ISSN:
0929693X
e-ISSN:
1769664X
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health