Glucose Transporter-1 (GLUT1) Deficiency Syndrome in Infants

Abstract

Summary O ur aim in this study was to examine CSF samples from infant patients with intractable epilepsy to diagnose those with possible GLUT1- DS. So we included 18 patients (9 males and 9 females with an age range of 6-23 months ''mean 12.7+5.57”) with intractable epilepsy who were admitted at the Pediatric Neurology department or followed up at Outpatient Pediatric Neurology clinic, Ain Shams University. All patients had irrelevant perinatal history. None of them had documented microcephaly at birth. Concerning family history in included patients: It was positive for seizures in 9 patients (50%), positive for MR in 3 patients (17%) and for microcephaly in 2 (11%) and negative in 8 patients (44%). Eleven patients had 1st cousin related parents (61%) and the rest (7 patients "39 %") had non related parents. Concerning developmental delay: There were two patients only, had accepted milestones of development, while 16 patients had developmental delay (89%). All patients were exhibiting early onset epilepsy (age of onset ranged from 1-20 weeks with a mean 8.4 +5.56) with various forms of seizures (15 patients had generalized form "83%", 3 patients had focal form "17%" and 2 patients "11%" had infantile spasm) and paroxysmal dystonia (12 patients 67%) which were precipitated by fever in 13 patients (72%), fasting in 6 (33%) and exertion in 8 patients (44%) and with no precipitation in 5 patients (28%). The seizures were occurring at a frequency of 2-100 times/week, as a range, (mean 26.2+27), for a period of time ranged from 3-22 months (mean 10.6+5.4) so patients had tried more than one AED but complications had been encountered, there were 14 patients (78%) on more than one AED and 4 on one drug for a duration ranged from 3-12 months (mean 7.16). All cases were subjected to detailed neurological examination during the study, there were four patients (22%) found to have microcephaly (head circumference diameter below 5th percentile in correlation to age and sex). Also we found that, seven patients (39%) had hypotonia, 7 had hypertonia (39%) and 4 patients had normal tone (22%), and 4 patients with hypo-reflexia, 8 with hyper-reflexia (44%) and 6 patients with normal reflexes (33%). All patients had normal blood glucose level after 4-6 hours of fasting in samples obtained just before lumbar puncture and normal serum lactate.