JH
Forum Senior
Topics: 19
Posts: 76
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This is from NBME I
A 6-year-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 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 decreased serum cholesterol level
B) Acanthocytes on blood smear
C) An excess of very long chain fatty acids
D) Normal nerve conduction studies
E) Vitamin E deficiency
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| Diego Casali
Forum Elite
Topics: 7
Posts: 234
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I think the correct answer is C.
The most likely diagnosis is adrenoleukodystrophy.
Please, correct me if I'm wrong.
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| doc68
Forum Junior
Topics: 2
Posts: 56
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C!!
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| study_ing
Forum Fanatic
Topics: 180
Posts: 2,511
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C i guess..
it is aleukodystropphy but the casi is closer to Metachromatic leukodystrophy in kaplan
Edited by study_ing on 10/05/06 - 02:53 PM
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