Clinical Reasoning: Novel GLUT1-DS mutation

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Intractable epilepsy is a common diagnosis among child neurology practitioners with medical management remaining unsatisfactory in many cases. GLUT1 deficiency syndrome (GLUT1-DS) is a disorder that should be considered in such situations. Evaluation by comparing serum to CSF glucose levels is a fast and relatively easy test, with hypoglycorrhachia being highly suggestive of GLUT1-DS. Furthermore, treatment with the ketogenic diet is well-established and can result in significant improvement in quality of life for these patients. The following case report outlines the presentation of one such patient and highlights common features that can be seen with GLUT1-DS. Of interest, she was found to have a spontaneous, novel mutation that has not been reported previously. Her case allows us to expand on the present literature and demonstrate the improvements that can be seen in a child with appropriate treatment.

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