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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?
Explanation
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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
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Reference
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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).
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Option 1
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Is Correct (Option 1):
Epilepsy surgery
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Option 2
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Is Correct (Option 2):
Gluten free diet
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Option 3
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Is Correct (Option 3):
Ketogenic diet
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Option 4
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Is Correct (Option 4):
Vagal nerve stimulation
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