Pérez-Dueñas Belén, Prior Catherina, Ma Qian, Fernández-Alvarez Emilio, Setoain Xavier, Artuch Rafael, Pascual Juan M
Department of Neurology, Hospital Universitari Sant Joan de Déu, Barcelona, Spain.
Arch Neurol. 2009 Nov;66(11):1410-4. doi: 10.1001/archneurol.2009.236.
To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly.
Case report.
Two academic medical centers. Patient A 7-year-old patient followed up for 4 years.
The patient exhibited a predominant syndrome of chorea and mental retardation associated with a combination of paroxysmal ataxia, dysarthria, dystonia and aggravated intellectual disability induced by fasting or exertion. She harbored a sporadic, heterozygous amino acid insertion in the GLUT1 transporter (insY292) that, in all likelihood, impaired blood-brain glucose flux. Her brain configuration appeared hypotrophic via magnetic resonance imaging, particularly over the occipital lobes. A ketogenic diet resulted in brain growth that accompanied a favorable symptomatic outcome.
To date, glucose transporter type 1 deficiency syndrome includes several epileptic and movement disorder phenotypes caused by the clinical expressivity of the prominent cortical, basal ganglia, and cerebellar abnormalities found in the disease, but hypomorphic or novel variants are probably yet to be discovered.
通过一种与小头畸形无关的新型临床和放射学表型来扩展1型葡萄糖转运体缺乏综合征的谱系。
病例报告。
两个学术医学中心。患者为一名7岁患者，随访4年。
该患者表现出以舞蹈症和智力发育迟缓为主的综合征，伴有阵发性共济失调、构音障碍、肌张力障碍以及禁食或运动诱发的智力残疾加重。她在GLUT1转运体中存在一个散发性杂合氨基酸插入（insY292），极有可能损害血脑葡萄糖通量。通过磁共振成像，她的脑形态显得发育不良，尤其是枕叶。生酮饮食导致脑生长，并伴有良好的症状改善结果。
迄今为止，1型葡萄糖转运体缺乏综合征包括由该疾病中突出的皮质、基底神经节和小脑异常的临床表型引起的几种癫痫和运动障碍表型，但可能尚未发现亚型或新型变异。
