title: [De Vivo disease. GLUT-1 deficiency syndrome: a case report].
abstract: 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.
authors: Service de neurologie, CHU Nedir Mohamed, 15000 Tizi-ouzou, Algérie. Electronic address: smailda05@yahoo.fr.
authors: S
authors: S
authors: Daoudi
authors: Service de neurologie, CHU Nedir Mohamed, 15000 Tizi-ouzou, Algérie.
authors: M
authors: M
authors: Lounis
authors: Service de pédiatrie, CHU Nedir Mohamed, 15000 Tizi-ouzou, Algérie.
authors: S
authors: S
authors: Chibout
authors: Service de pédiatrie, CHU Nedir Mohamed, 15000 Tizi-ouzou, Algérie.
authors: N
authors: N
authors: Bensaadi
authors: Service de neurologie, EPH Ali Ait-Idir, 16009 Alger, Algérie.
authors: M
authors: M
authors: Ait-kaci-Ahmed
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*
chemical_list: D009004:Monosaccharide Transport Proteins