الفهرس 
Detection of glucose transporter type 1 deficiency syndrome as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
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Abstract
Glucose tansporter type 1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. The diagnosis of GLUT1-DS is suggested by a decreased absolute cerebrospinal fluid (CSF) glucose value (<3 mmol/L) or lowered CSF: plasma glucose ratio (<0.46) that is more accurate. The aim of this study is to detect the prevalence of GLUT1DS among patients presenting with intractable seizures, unexplained developmental delay with or without microcephaly by measuring of both CSF glucose, and CSF glucose to serum glucose ratio in a condition that CSF lactate is not high subjects and this is a review of fifty Egyptian patients with idiopathic refractory seizures. The clinical presentation, clinical course, neuroimaging, laboratory investigations especially for CSF analysis are discussed. This study involved 50 patients with idiopathic refractory seizures. They were classified according to seizures type into; tonic seizures (18%), clonic seizures (10%), tonic-clonic seizures, (50%), and myoclonic seizures (22%). Amongst the study group (8%) could be diagnosed as Glut1DS, All of the diagnosed four patients had generalized tonic clonic seizures as a predominant pattern of seizures, all of the affected patients had movement disorders (4/4). Glucose transporter deficiency syndrome is more prevalent in a high risk group of children than has previously been reported. Patients with hypertonia have more possibility to have the disease. Every effort should be done to reach a confirmed diagnosis by molecular studies