Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yonsei Med J. 2019 Dec;60(12):1209-1215. doi: 10.3349/ymj.2019.60.12.1209.
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 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.
GLUT1 缺乏症是一种罕见的神经代谢疾病，可以通过生酮饮食有效地治疗。然而，由于其症状具有非特异性、重叠性和随年龄变化的特点，因此这种疾病的诊断不足。我们回顾性分析了 9 例基于基因突变和/或脑脊液葡萄糖浓度诊断为 GLUT1 缺乏症患者的临床病程。患者包括 8 名男孩和 1 名女孩，除了 1 名新生儿表现为呼吸暂停外，他们在 2 岁之前均以癫痫发作（44%，4/9）或发育迟缓（44%，4/9）为首发症状。在临床病程中，所有患儿均出现混合性癫痫发作，包括失神发作和全面强直阵挛发作。约一半（56%，5/9）患儿出现运动障碍，如共济失调、肌张力障碍或运动障碍。尽管并非所有患者均如此，但我们观察到表型随时间演变。只有 1 名患儿有小头畸形。在 5 名患者中，生酮饮食有效地减少了癫痫发作和运动症状，患者的认知功能也有主观改善。由于表型的可变性和演变，GLUT1 缺乏症的诊断具有挑战性。对于有癫痫或运动障碍的儿科甚至年长患者，临床医生应高度怀疑该病，以便早期诊断和治疗，从而提高患者的生活质量。
