An interesting patient

[KHE]

12 year old girl presents to the office for an eye exam. Mom reports nystagmus when looking up close. (Mom is a nurse, knows what nystagmus is)

Child has no current or past health issues. Normal weight and height. Normal developmental milestones. Normal to above average academic performance. Normal 12 year old girl extracurricular activities. (ballet lessons, softball etc)

Eye exam is completely normal, 20/20 OU, normal color, stereo binocular vision tests. Basic eval of affarent and efferent motor and sensory systems is normal and equal on both sides.

I look at her, and sure enough she does have nystagmus when I sit in front of her and she looks at my face, but the nystagmus is NOT illicited with any other near point target, large OR small. It's ONLY illicited with human faces!

The funny thing is, I showed her a PICTURE of a human face and the nystagmus appeared. With a picture of a cat face, it did NOT.

I know of no organic reason why this would occur only with human faces, so I'm sure it's rooted in some sort of psychological phenomenon though the child seems very well adjusted in every way, and was well engaged in the exam and conversation.

Quite peculiar.....any thoughts?

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[Mirror Form]

Hmmm, as a natural born cynic, my first thought is . . . are you 100% sure it was really nystagmus? If so, what type?

 

[Eyefixer]

Hmmm, as a natural born cynic, my first thought is . . . are you 100% sure it was really nystagmus? If so, what type?

Agree with importance of knowing which type of nystagmus this is: pendular, ocular flutter, opoclonus...

I had a 10 yo girl last year who had intermittent opsoclonus-like eye movements who received a million dollar work up including all the paraneoplastic antibodies, pan-CT rulling out neuroblastoma and everything else under the sun, brain MRI, etc., etc. At the end of the day (with the blessing of a nuro attending, of course) we concluded that this was functional.

 

[orbitsurgMD]

Hmmmm. This is where a video sometimes helps. Does she have this eye movement when she looks at your right eye only? A face is not a point target up close; people tend to scan eye to eye and across the upper midface.

 

[Wolverine98]

My first thought was also what's known as "voluntary nystagmus". Some people can give a very convincing nystagoid movement.

 

[KHE]

Hmmmm. This is where a video sometimes helps. Does she have this eye movement when she looks at your right eye only? A face is not a point target up close; people tend to scan eye to eye and across the upper midface.

This movement was not the normal conversational type eye movement of someone going back and forth between the two eyes of the person they are speaking to. This was a definate jerk nystagmus type movement which had no null point, and was the same in all directions of horizontal gaze, though seemed to be slightly less with chin elevation.

It also did NOT occur with small point targets, or with large targets that were not human faces. It occured ONLY with human faces.

Fascinating.

 

[toulouselautrec]

One of our former attendings could pull off a "voluntary nystagmus." She could emulate an OKN response and other types (well, maybe not pendular). It was before my time, but I heard that it looked pretty damn real...

 

[jefguth]

any fatigue after sustained nystagmus/convergence?

 

[monkey7247]

My gut feeling is functional, but obviously that's a diagnosis of exclusion.

 

[KHE]

My gut feeling is functional, but obviously that's a diagnosis of exclusion.

Functional was also my ultimate diagnosis since I could not think of or find any possible organic reason why it would occur ONLY under the incredibly narrow range of conditions that it does. There should really be no area of the brain that could have a lesion that would cause this presentation.

However....a hypothetical question here:

Can you make a diagnosis of exclusion without the "million dollar" workup?

How many of you would order the million dollar workup?

How many of you would order the million dollar workup if the patient had insurnace, but would NOT if the patient had NO insurance?

Many people will likely respond with "they would treat the patient equally in both situations and order the workup." Another common response is "I would want my mother or sister to have the tests."

Well, of course we ALL would want our mother or sister to have the tests, but the question shouldn't be do we want them to have the tests. The question should be "If this were my mother, would I want them to pay $5000 for these tests given their presenting history?"

Does that aspect of it come into play?

 

[NR117]

Functional was also my ultimate diagnosis since I could not think of or find any possible organic reason why it would occur ONLY under the incredibly narrow range of conditions that it does. There should really be no area of the brain that could have a lesion that would cause this presentation.

However....a hypothetical question here:

Can you make a diagnosis of exclusion without the "million dollar" workup?

In this case, absolutely! That's why we have neuro-ophthalmologists. Voluntary nystagmus is a misnomer, since nystagmus always has a slow phase whereas voluntary flutter consists of back-to-back fast phases (saccades) without an intersaccadic interval. About 8 % of the population is capable of this party trick (don't ask me how they got this figure!).

Any neuro-ophthalmologist who's good with the efferent side of things should be able to make this diagnosis clinically. If your local neuro-ophthalmologist is more an afferent one, eye movement recording (electrooculography or infrared) would come in handy, since you would clearly see back-to-back saccades. In most cases though this is not necessary.

 

[Mirror Form]

In this case, absolutely! That's why we have neuro-ophthalmologists.

Exactly. Most neuroohthalmologists would have been able to tell if it was fake in about 5 seconds. As one neuroophthalmogists said during a lecture "voluntary nystagmus is a beautiful thing" (b/c it's so easy for them to dx).

 

[NR117]

Just to add that voluntary flutter in this particular patient is not a diagnosis of exclusion (even though it may be in other situations), since there is nothing besides voluntary flutter that fits what you're describing. Your patient made this diagnosis easy for you by throwing in the weird human face trigger...

 

[qwopty99]

Exactly. Most neuroohthalmologists would have been able to tell if it was fake in about 5 seconds.

I would sure hope so.