TY -的T1 -儿童神经病学:儿童遗传性首页痉挛性截瘫JF -神经学乔-神经病学SP - e75 LP - e79做- 10.1212 / WNL。0 b013e3181fc2776六世- 75 - 19盟s.t。de机器人非盟- B.P.C. van de Warrenburg盟H.P.H.克雷默AU - M.A.A.P. Willemsen Y1 - 2010/11/09 UR - //www.ez-admanager.com/content/7首页5/19/e75.abstract N2 -因为遗传性痉挛性截瘫的医学文献(HSP)是由成人病例分析的描述,较少强调遗传评估HSP的疑似儿科病例。进步的痉挛性截瘫的鉴别诊断强烈取决于发病年龄,以及相应的临床特征,可能异常MRI和家族史。为了制定合理的诊断策略儿童HSP的情况下,我们进行了文献检索关注体征和症状,发病年龄和基因型。我们提出一个案例的一个小男孩REEP1 (SPG31)突变。一个4岁男孩面对进步行走困难从他开始走在12至13个月的年龄。他的家族史显著与35岁后发病,最小的步态异常发生在病人的母亲,外公,和姨妈;没有人曾经就医。神经系统检查发现一个轻度痉挛步态明显下肢反射亢进和双边巴宾斯基现在的迹象。振动知觉降低了脚踝。 Neurologic examination of the patient's mother and maternal aunt revealed subtle gait abnormalities with bilateral Babinski signs present. MRI of the brain and spinal cord and general metabolic screening revealed no abnormalities. Diagnostic genetic testing in both the patient and his mother revealed a pathogenic mutation (c.417 + 1 G>T) in REEP1 (SPG31) which causes a pure HSP. Mutations in ATL1 (SPG3A) and SPAST (SPG4) had previously been excluded. HSP is a genetically and clinically heterogeneous group of disorders in which the main clinical feature is progressive lower limb spasticity secondary to pyramidal tract dysfunction. HSP is classified as pure if neurologic signs are limited to the lower limbs (although urinary urgency and mild impairment of vibration perception in the distal lower … ER -