dr_jojo
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19. 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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| muna
Forum Senior
Topics: 17
Posts: 126
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yes c,Refsums Disease
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| robin082006
Forum Hero
Topics: 471
Posts: 5,125
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C---> An excess of very long chain fatty acids
Refsum symptoms:
Degenerative nerve disease (peripheral neuropathy);
Vision loss (retinitis pigmentosa);
Loss of muscle control/coordination (ataxia);
And possibly scaly, dry skin and scalp (ichthyosis).
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| muna
Forum Senior
Topics: 17
Posts: 126
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I am so sorry I dont think its refsums disease .I dont no What it is?
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| Aashi
Forum Moderator
Topics: 112
Posts: 958
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C) An excess of very long chain fatty acids ----->adreno leukodystrphy
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| muna
Forum Senior
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Posts: 126
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THANK YOU dr. jojo
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| robin082006
Forum Hero
Topics: 471
Posts: 5,125
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good lession,
this is Adrenoleukodystrophy symptoms
failure to develop
seizures,
ataxia
adrenal insufficiency
degeneration of visual and auditory function
spinal cord dysfunction
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The Key to Succeed is Patience.
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| muna
Forum Senior
Topics: 17
Posts: 126
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thank you robin
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