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Author5 Posts
  #1

A 6 YEAR OLS BOY HAS PROGRESSIVE VISUAL LOSS OVER THE PAST YEAR. THE MOTHER TELLS YOU THAT FOR THE LAST 2 YEAARS HE HAD DETERIORATION OF HEARING, SPEECH , WRITING , INTELECTUAL PERFORMANCE. A MATERNAL UNCLE HAS SIMILAR. PHISICAL EXAM: VISUAL ACUITY: 20/200 BILATERALLY. FUNDOSCOPY: OPTIC ATROPHY. HE HAS SIGS OF UPPER NEURON COMPROMISE. HE IS NOT ORIENTED IN PLACE TIME AND PERSON. MRI SHOWS SYMMETRIC WHITE MATTER DISEASE INVOLVING ALL LOBES. WHAT DOES DX STUDIES WILL SHOW??????

A) ABNORMALLY DECREASES SERUM CHOLESTEROL
B) ACANTHOCYTES IN BLOOD SMEAR
C) EXCESS OF VERY LONG CHAIN FATTY ACIDS
D)NORMAL NERVE CONDUXN STUDIES
E) VIT E DEFICIENCY




  #2

excess of verylong chain fatty acids..

this looks like a case of adrenoleukodystrophy..X-linked


  #3

yep C...ALD


  #4

ya i think u r 100% correct


  #5

I guess it is.
Acanthocytes (a betalipoproteinemia ) comes with diarrhea
vit E deficiency ( friederich ataxia) no ataxia
Normal nerve conduction .... seems a white demyelinating disease
letter a don{t think so.


THANKS GUYS YOU ARE THE BESTS :P 8)





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