Pediatric, Rare Neurometabolic, and Paroxysmal Movement Disorders

Abstract

Objective: To present a new case of glucose transporter type 1 de fi - ciency syndrome (GLUT1-DS) diagnosed in adulthood and to describe the associated radiological fi ndings. Background: Glucose transporter type 1 de fi ciency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene, resulting in impaired glucose transport across the blood-brain barrier and consequent cerebral energy de fi ciency. The disorder typically presents during childhood with seizures (including generalized tonic-clonic and absence seizures, among others), episodic eye-head movements, movement disorders (often triggered by fasting, fatigue or exercise) and psychomotor delay. Brain MRI fi ndings are usually normal or show only nonspeci fi c abnormalities, such as FLAIR hyperintensity of the U-fi bers or delayed myelination. Methods: We describe a clinical case and perform a review of the relevant literature. Results: We report a 57-year-old man previously diagnosed with cerebral palsy, who had pharmacoresistant epileptic seizures since childhood, associated with motor and intellectual disability, speech impairment and dystonic gait. He also presented paroxysmal dystonic episodes affecting both feet while walking. Brain MRI revealed marked hypointensity of the caudate nucleus and putamen (Figure 1). Genetic testing for neurodegeneration with brain iron accumulation (NBIA) disorders was negative. However, analysis of genes associated with paroxysmal dystonia identi fi ed a heterozygous pathogenic variant