Affiliations: Department of Neurology, National Pediatric Hospital “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina | Department of Nutrition, National Pediatric Hospital “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina | Central Laboratory, National Pediatric Hospital “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina
Note:  Corresponding author: Dr. Eduardo Monese, Department of Neurology, Hospital Nacional de Pediatría “Prof. Dr. Juan P Garrahan”, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina. Tel.: +54 11 4943 6116; Fax: +54 11 4943 6116; E-mail: [email protected]
Abstract: We describe a 4.5-year-old girl with an unremarkable personal and family history. At 16 mo of age, she had a single generalized tonic-clonic seizure while awake. At 3 yr of age, she started with daily absence seizures while awake and hyperkinetic and aggressive behavior. The interictal electroencephalography showed bilateral temporo-occipital spike and wave complexes. The ictal video-electroencephalography recordings showed symmetric or asymmetric and synchronized spike and wave paroxysms associated with absences. Neurological examination revealed motor clumsiness, ataxia, and receptive and expressive language deficits. Routine laboratory and imaging studies as well as blood and urine neuro-metabolic investigations were normal. The absences were refractory to antiepileptic drugs. Cerebrospinal fluid glucose concentration was 36 mg/dL, lactate concentration was 1 mmol/L, and cerebrospinal fluid/plasma glucose ratio was 0.49. Based on the electro-clinical manifestations, neurological examination, and the metabolic study results, glucose transporter-1 deficiency was diagnosed and the girl was started on the ketogenic diet with good response.