Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Abstract

Children presenting with a clinical phenotype consisting of a refractory seizure disorder, ataxia and developmental delay should prompt the consideration of Glucose transporter 1 deficiency syndrome. While the diagnostic test of lumbar puncture is an invasive manoeuvre, the diagnosis provides a viable treatment option, the ketogenic diet. GLUT1-DS displays clinical heterogeneity, but the value of early diagnosis and treatment is demonstrated by our patient cohort.

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia

“…However, the new study was carried out only recently, allowing a long follow up in different generations. This is in line with a recent study suggesting that GLUT1DS is underdiagnosed, and its frequency in certain populations may reach to about 1:83,000e1:90,000 (Coman et al, 2006;Larsen et al, 2015). The classical phenotype of GLUT1DS is characterized by infantile seizures (resistant to traditional seizure medications), developmental delay, acquired microcephaly and complex movement disorders consisting of ataxia, dystonia and spasticity, more often paroxystic.…”

Understanding the Spectrum of SLC2A1-Associated Disorders

“…They estimated that the 8-year frequency of GLUT1 DS was 1:83,245, which correlated with a previously reported incidence in Australia of 1:90,000 [1,2]. …”

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation

“…The diet consisted of a 3:1 proportion of fat to carbohydrates, the fat being supplemented with long-chain triglyceride mix (Ketocal, SHS Nutricia, Liverpool, UK) as previously reported [11]. Both patients showed immediate improvement of all of their symptoms.…”