A Case of Glucose Transporter 1 Deficiency Syndrome

Abstract

Glucose transporter 1 deficiency syndrome (GLUT1 DS) is a treatable neurometabolic condition caused by impaired glucose transport across the blood–brain barrier. The phenotypic spectrum of this condition has expanded with complex movement disorders being increasingly recognized in affected patients. We present a 10-year-old boy who was brought to our institute with developmental delay, infantile-onset epilepsy with multiple seizure types, paroxysmal ataxia more marked in the morning, fatigability with leg pains, and behavioral issues. His cerebrospinal fluid (CSF) analysis showed hypoglycorrhachia with normal blood glucose, which clinched the diagnosis of GLUT1 DS. He responded very well to ketogenic diet. Thus, in case of refractory epilepsy or complex movement disorder, CSF analysis may provide a clue for the diagnosis of GLUT1 DS. Early recognition helps in prompt initiation of treatment with the ketogenic diet and leads to a favorable outcome.

Keywords

blood–brain barrier - hypoglycorrhachia - epilepsy - glucose transporter 1 deficiency syndrome - ketogenic diet - movement disorder

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