脑健黄瘤病病例分享和文献.pptVIP

脑健黄瘤病病例分享和文献;Case 1; A 47 years old white man which symptoms began at 20 years old. He presented progressive walking difficulty, becoming unable to walk fast at 40 years old. He presented delay of the psychomotor development .He had a history of chronic diarrhea during the childhood. His mother denied other family members with similar symptoms, except for the patient’s younger brother. ; In the neurological examination, he presented mild mental retardation, mild bilateral facial palsy without other findings in cranial nerves. His muscular strength was IV – in superior limbs (SL) and IV- in inferior limbs (IL). We noted moderate spasticity in IL, increased deep tendon reflexes with bilateral Babinski sign. The sensibility was preserved . The patient presented symmetrical dismetry and disdiadococinesy in SL. He had also gait ataxia and walked with support.; A, 40 years old white man, case twos brother, which according to the mothers information, presented learning difficulty since childhood, unable to read or to write. He did not finish the basic school. At 35 years of age he began with progressive difficulty to walk .He also presented chronic diarrhea and was submitted to a bilateral cataracts surgery in the childhood. ; In the neurological exam he presented mild mental retardation, visual handicap and facial palsy without other abnormalities in cranial nerves. The muscle strength was V in SL and IV+ in IL. Other findings were spasticity in IL, increased deep tendon reflexes with bilateral Babinski and Hoffman signs. Sensibility was preserved. He had walking disturbance with ataxia and spasticity in IL. ; 患者男性,52 岁。以“头痛、发热、声音嘶哑1 周”入院。入院前1 周无明显诱因出现头痛,为后枕部跳痛,呈阵发性并持续加重,伴有发热,体温最高达38.8 ℃, 咳嗽,无痰,声音嘶哑。入院后患者出现尿潴留,饮水呛咳并逐渐出现进食饮水困难。患者13 岁双眼曾患白内障,25岁行白内障手术;1990 年开始逐渐出现痉挛性截瘫和智能障碍。入院查体:体温37.8 ℃,血压130/70 mmHg 。神志清楚,声音嘶哑,反应淡漠,计算力差,左侧软腭抬举无力,咽反射消失,左侧声带麻痹,伸舌左偏,双上肢肌力Ⅴ级,肌腱反射对称,双下肢肌力Ⅳ级,双侧膝反射及跟腱反射活跃,双侧踝阵挛阳性,双侧巴宾斯基征阳性。家系调查:患者妹妹也呈痉挛性步态,???白内障和明显智能障