잠시만 기다려 주세요. 로딩중입니다.

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Yonsei Medical Journal 2019년 60권 12호 p.1209 ~ 1215
 ( Kim Hyun-A ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics

 ( Lee Jin-Sook ) - Gachon University College of Medicine Gil Medical Center Department of Pediatrics
 ( Lee Young-Ha ) - Seoul National University College of Medicine Department of Biomedical Sciences
 ( Kim Soo-Yeon ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
 ( Lim Byung-Chan ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
 ( Kim Ki-Joong ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
 ( Choi Mu-Rim ) - Seoul National University College of Medicine Department of Biomedical Sciences
 ( Chae Jong-Hee ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics

Abstract


GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic?clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.

키워드

GLUT1 deficiency; ketogenic diet; phenotypic variability; SLC2A1
원문 및 링크아웃 정보
  
등재저널 정보