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
