Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series.

ABSTRACT: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the SLC2A1 gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment. Currently, the pathomechanism underlying these acute transient clinical manifestations is poorly understood. MR imaging studies performed in the absence of acute manifestations frequently reveal nonspecific im

SUBMITTER: Pacchiano F 

PROVIDER: S-EPMC11878979 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature