脑健黄瘤病病例分享和文献讲义.pptVIP

脑健黄瘤病病例分享和文献 Case 1 A 44-year-old man presented with progressive cerebellar ataxia and spastic paraparesis. Gait difficulties had started at age 16 years, and at age 42 years bilateral cataracts were diagnosed. His cognitive function progressively declined, and seizures repeatedly occurred. Neurology 2005;64;1476 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. Case 2 Arq Neuropsiquiatr 2004;62(4):1085-1089 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. Arq Neuropsiquiatr 2004;62(4):1085-1089 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. Case 3 Arq Neuropsiquiatr 2004;62(4):1085-1089 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 a