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A Spurious Vision!

Topic: Adult

Created on Saturday, November 8 2008 by rednucleus

Last modified on Saturday, November 8 2008.

A 16-year-old high school boy is referred from the cardiology clinic. He says I have progressive drooping of my upper lids but I’m not bothered by this and I have no problems with doing my assignments, although my hearing is not that good. Examination shows bilateral ptoses, limited ocular movements but no diplopia, and unstable gait. Which one of the following he might also have?

 
        A) Myelinated nerve fibers on fundoscopy
 
        B) Blood sugar of 65 mg/dl
 
        C) CSF protein 130 mg/dl
 
        D) Pes cavus
 
        E) Scattered brain T2 hyper-intensities on MRI
 

 


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This question was created on November 08, 2008 by rednucleus.
This question was last modified on November 08, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS



A) Myelinated nerve fibers on fundoscopy

This answer is incorrect.


Although this might be an “incidental” benign finding, it has no clear-cut relationship with Kearns-Sayre; retinitis pigmentosa is the expected fundoscopic finding.  (See References)

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B) Blood sugar of 65 mg/dl

This answer is incorrect.


Hyperglycemia, not hypoglycemia, occurs in Kearns-Sayre.  (See References)

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C) CSF protein 130 mg/dl

This answer is correct.


Note that he has been referred by the cardiologist; so, he must have been presented with a cardiac problem in the first place (what sort? syncope, palpitations, dropped beats…etc?). The ocular findings are suggestive of progressive external ophthalmoplegia (ocular weakness and ptoses without diplopia). The constellation of cardiac, ocular, and gait abnormalities (?and the sensori-neural hearing impairment) fits Kearns-Sayre. The CSF of those patients has raised protein > 100 mg/dl. Note that he can do his school assignments because he has no double vision and that his retinitis pigmentosa might be an early one so as to escape detection.  (See References)

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D) Pes cavus

This answer is incorrect.


The scenario might well misdirect you towards Friedreich’s ataxia; the latter has no ophthalmopelgia.  (See References)

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E) Scattered brain T2 hyper-intensities on MRI

This answer is incorrect.


Might be seen with MELAS.  (See References)

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References:

1. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. (ISBN:0070674973)Advertising:
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adult
A Spurious Vision!
Question ID: 110808065
Question written by rednucleus. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 11/08/2008
Modified: 11/08/2008
Estimated Permutations: 120

User Comments About This Question:

1 user entries
 

jdmiles
adult Nice question. Nov 20, 2008 @ 08:51

Thanks to rednucleus for this question.

For the reader interested in reading more, check Adams & Victor, 8th edition, pages 540-541.  Note this quote from those pages, in reference to the use of acetazolamide (and other drugs) for pseudotumor:

"We have occasionally observed gradual recession of papilledema and a lowering of CSF pressure in response to each of these measures, but such responses were not consistent or sustained and it was always difficult to decide whether they represented the effect of treatment or the natural course of the disease. Greer, who has reported on 110 patients, 11 of whom were treated with these agents, decided that they were of no value."

 



 
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