vnty
Forum Senior
Topics: 24
Posts: 87
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a 6-y-old boy is brought to the physician by his mother because of progressive visual loss over the past year. Over the past 2 years, he has had deterioration of his 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. Babinski's sign is present bilaterally. ON mental status examination, he is not oriented to place, year, month, or the naes of his siblings. An MRI of the brain shows marked syetric white matter disease involving all lobes. Diagnostic studies are most likely to show which of the following?
. abnormally decreased serum cholesterol level
. acanthocytes on blood smear
. an excess of very long chain fatty acids
. normal nerve conduction studies
. vit E deficiency
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| drhyd
Forum Senior
Topics: 7
Posts: 82
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its adrenolekodystropy, so increased long chain fatty acids
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| frank100
Forum Guru
Topics: 48
Posts: 586
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yup, I agree
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