TY -的T1 - Glut1缺陷综合症-一个新兴实现千变万化的表型(P05.132) JF -神经学乔-神经病学SP - P05.132 LP - P05.132六世- 78 - 1补充非盟-东王盟香港杨A首页U -克里斯汀Engelstad AU -新华社宝盟Darryl De Vivo Y1 - 2012/04/25 UR - //www.ez-admanager.com/content/78/1_Supplement/P05.132.abstract N2 -目的:强调扩大过剩的表型特征1缺乏和诊断测试的值来确定这种治疗的。背景Glut1缺陷综合症(Glut1DS)以infantile-onset全球脑病表现运动和精神发育迟缓,癫痫,头增长的减速,和运动异常。生物标志物是一个低CSF葡萄糖值的关键。有超过90%的患者报告CSF葡萄糖值小于40 mg / dl。不幸的是,有一个公共和专业不愿进行腰椎穿刺诊断过程。这增加了临床诊断的需求头脑不愿考虑Glut1 DS的变体形式。我们现在认识到更多的病例和微妙的神经行为作为主要表现迹象。设计/方法:1。临床病例报告;2。在红细胞葡萄糖吸收;3所示。 Mutation analysis of the GLUT1 gene.Results: A 6 yr old boy having developed normally began to exhibit serious behavioral abnormalities including fluctuating mood, episodic unprovoked crying, complex motor tics, olfactory hallucination, motor restlessness, unsteady gait, frequents falls, paroxysmal bicycling movements of legs, and rotatory movements of arms. These episodes would last a few minutes to 1 hour. There was no evidence of clinical seizures or intellectual disability. The CSF glucose values were low (34, 43 and 44 mg/dl) and the blood glucose values were normal (87-89mg /dl). EEG showed frequent high amplitude spike-slow waves in the frontal region. Treatment with oxcarbazapine was ineffective. The erythrocytes glucose uptake assay was 58% of control. SLC2A1 gene sequencing revealed a novel P383H missense mutation. Dietary treatment resulted in control of the neurobehavioral disturbances.and resolution of symptoms.Conclusions: Clinicians need to be alert to atypical presentations of Glut 1 DS and take advantage of a diagnostic lumbar puncture when searching for informative laboratory clues. Hypoglycorrhachia is the key biomarker that facilitates prompt intervention in a treatable condition.Supported by: The Colleen Giblin Foundation and the Will Foundation.Disclosure: Dr. Wang has nothing to disclose. Dr. Yang has nothing to disclose. Dr. Engelstad has nothing to disclose. Dr. Bao has nothing to disclose. Dr. De Vivo has nothing to disclose.Wednesday, April 25 2012, 14:00 pm-19:00 pm ER -