Abstract：
Clinical management of patients with fragile X-associated tremor/ataxia syndrome (FXTAS) is a challenge, and there has been not an established treatment for FXTAS, which is now treated symptomatically. Diagnosis of coexistent idiopathic normal pressure hydrocephalus (iNPH) with FXTAS is also hard because clinical and imaging features can overlap between the FXTAS patients coexistent with and without iNPH. We present a 79-year-old male genetically diagnosed with FXTAS who was successfully treated by a shunt surgery and consequently diagnosed with iNPH, and suggest the management of coexistent iNPH with FXTAS when it is clinically suspicious.
摘要：
脆性X相关震颤/共济失调综合征（FXTAS）患者的临床管理是一个挑战，并且对于FXTAS还没有确定的治疗方法，现在对症治疗。与FXTAS共存的特发性正常压力脑积水（iNPH）的诊断也很困难，因为与iNPH共存的FXTAS患者之间的临床和影像学特征可能会重叠。我们介绍了一名79岁的男性基因诊断为FXTAS，他通过分流手术成功治疗，因此诊断为iNPH。并建议在临床可疑时处理与FXTAS共存的iNPH。
