No abstract

A 12 year old male presented for evaluation of chorea induced by fasting and exercise. EEG, Brain MRI, spectroscopy, metabolic and microarray evaluations were unremarkable. Fasting EEG showed diffuse spike-wave discharges with postprandial normalization (Figure 1); chorea was not captured. Genetic testing confirmed a pathogenic SLC2A1 mutation consistent with Glucose transporter-1 (GLUT-1) deficiency syndrome, which is uniquely responsive to ketogenic diet. EEG findings in this syndrome may include multifocal or generalized spikes, with postprandial improvement (1, 2). This case suggests a supportive role for fasting EEG in the diagnosis of Glucose transporter-1 deficiency syndrome, but the sensitivity and specificity remain unclear.