Quiz Form

Question Date: 20/09/2023

Question: A 6 year old girl was brought to her pediatrician in view of refractory epilepsy, neuroregression and abnormal involuntary movements. She had intellectual disability, abnormal eye and head movements and chorea.<br><br> Her examination revealed a spastic ataxic gait with dystonia.<br><br> She had recurrent daily episodes of generalized tonic clonic seizures which was pharmacoresistent. Her CSF studies showed low glucose level and normal proteins and cells.<br><br> What treatment will you prescribe for her?

Options:

• Epilepsy surgery
• Gluten free diet
• Ketogenic diet
• Vagal nerve stimulation

Correct Answer: Ketogenic diet

Explaination: Any young patient with pharmacoresistent epilepsy and movement disorder with low CSF sugars should raise suspicion for Glut 1 deficiency. Ketogenic diet is prescribed for Glut1 deficiency

Reference: Klepper, J. et al. Glut1 Deficiency Syndrome (Glut1DS) State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open 5, 354365 (2020).