03-25-2007, 11:00 AM
A 6 yrs old boy is brought to the physician by his mother because of progressive visual loss over the past year. Overy the past 2 years, he has had deterioration ofhis hearing, speech, writing, and intellectual performance. His maternal uncle had similar symptoms. Visual acuity is 20/200 bilaterally. Funduscopic examination shows optic atrophy. His hearing is markedly impaired. There is weakness and spasticity of all extremities. Deep tendon reflexes are extremely hyperactive. Babinsk™s sign is present bilaterally. On mental status examination, he is not oriented to place, year, month, or the names of his siblings. An MRI of the brain shows marked symmetric white matter disease involving all lobes. Diagnostic studies are most likely to show which of the following?
A. Abnormally decrease serum cholesterol level
B. Acanthocytes on blood smear
C. An excess of very long chain fatty acids
D. Normal nerve conductin studies
E. Vitamin E deficiency
A. Abnormally decrease serum cholesterol level
B. Acanthocytes on blood smear
C. An excess of very long chain fatty acids
D. Normal nerve conductin studies
E. Vitamin E deficiency