Case 1
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56 year-old male with ataxia
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Prepared by: 
Karen Thompson, MD and Meena Gujrati, MD
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Clinical History:
  • 56-year-old white male
  • Severe progressive motor disability
  • Slow to develop as a child; developed slurred speech and dysphagia
  • Bilateral cataract removal at age 17
  • Bilateral ankle swelling

Family History:

  • Two (1 male and 1 female) of three siblings with same afflication
  • Parents with "diabetes"

Physical Examination:

  • Ataxic-spastic gait
  • Dysarthria
  • Polyneuropathy
  • Bilateral ankle swelling

Laboratory Values:

  • Chromosomes - normal
  • Chest X-ray - normal
  • EKG - normal
  • Head CT - diffuse, cortical atrophy (31 years of age)

Additional Findings:

  • Serum cholesterol - 209
  • Triglycerides - 91
  • Serum cholestrol - increased
  • Galactose tolerance test - normal
  • Galactose transferase levels - normal
Figure 1  
Figure 1:
Figure 2 Figure 3 Figure 4 Figure 5
Figure 2: Figure 3: Figure 4: Figure 5:
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CASE PRESENATIONS
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