Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.
To report the case of a child with short absences and occasional myoclonias since infancy who was first diagnosed with an idiopathic generalized epilepsy, but was documented at follow-up to have a mild phenotype of glucose transporter type 1 deficiency syndrome. Unlike other reported cases of Glut-1 DS and epilepsy, this child had a normal development as well as a normal head growth and neurological examination. Early onset of seizures and later recognized episodes of mild confusion before meals together with persistent atypical EEG features and unexpected learning difficulties led to the diagnosis. Seizure control and neuropsychological improvements were obtained with a ketogenic diet.
Roulet-Perez
Eliane
E
Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Eliane.Roulet-Perez@chuv.ch
Ballhausen
Diana
D
Bonafé
Luisa
L
Cronel-Ohayon
Stephanie
S
Maeder-Ingvar
Malin
M
D002648:Child; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis*; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000378:metabolism*; D004829:Epilepsy, Generalized / Q000175:diagnosis*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012720:Severity of Illness Index
D051272:Glucose Transporter Type 1