Encephalopathy by glut-1 deficiency

case report

Abstract

Glut-1 deficiency syndrome (GLUT1DS), first described by De Vivo in 1991, is caused by a deficient glucose transport in the blood brain barrier and astrocytes by mutations mostly de novo heterozygous in the SLC2A1 gene encoding the glucose transporter type 1 (GLUT-1). This mutation limits the availability of cerebral glucose leading to energy deficiency, being the mechanism that generates its clinical manifestations. The suggestive symptoms are convulsions, developmental delay, microcephaly, hypotonia, spasticity, and complex changes in movement consisting of ataxia and dystonia. In GLUT1DS patients, alternative energy substrates are of fundamental importance. Numerous studies recommend the use of the ketogenic diet in an imperative manner as a gold standard treatment method. This, in the first years of life in patients with GLUT1DS, guarantees a better cognitive result and improvement in psychomotor aspects. Because GLUT1DS is a disease of recent discovery, few cases described in the literature, heterogeneous clinical features and substantial lack of casuistry is often underdiagnosed. Due to this, suspicion criteria and diagnostic algorithms become necessary. Thus, the purpose of this article is to draw the attention of the Brazilian medical community to this syndrome with a view to increasing its diagnosis and improving the prognosis of difficult-to-control epilepsy.