Psuedo-papilledema? In a 4 years-old boy

Figure 1: Shows right optic nerve head that appears hyperemic, no cup, elevated nasally more than temporally with a light reflex nasally and dilated retinal vessels. Disc margins are somewhat blurred nasally
Figure 2: Right eye posterior pole dilated and tortuous retinal vessels.Figure 3 shows left eye disc and macula. The disc elevation is mainly nasal as one follows the vessels follow the contour of the nasal edge. The surface is hyperemic without a cup there is a nasal light reflex. No edema, hemorrhages, or obscured vessels

Friday, I saw a child that according to the mother was referred because of "a leaking blood vessel and just had an MRI yesterday." The 4 years-old boy was quite hysterical during dilation and seemed likely to be a challenge for the eye exam. In an adult, I might have called the referring physician first, however, the patient was ready and so was I. I figured more delay and fatigue would lead to greater grumpiness and less cooperation. Moreover, I was likely to figure out the problem if I just looked.

In fact, our hero, had a natural bob and weave, but was otherwise easily engaged and fairly cooperative at the exam. The finding on ophthalmoscopy with the 28 D lens were more impressive than the photos, with the advantage of axial magnification the optic nerve looked more elevated and the blood vessels appeared more dilated and tortuous. The optic nerves and the peripapillary area did not seem particularly edematous, there were no hemorrhages and the vessels were not obscured by nerve fiber layer tissue. There were no exudates or cotton wool patches.

The photographs really made the diagnosis because it stopped the rapid movement. I was surprised that the photographer did so well.

The eyes reminded me of a recent Down Syndrome child and the pseudo-papilledema is well described in the literature for them. I performed an b-scan looking for disc drusen and found nothing remotely suspicious. Having done my best, I told the mother that I would call the referring physician and check out the MRI and give her the report.

She was assertive and wanted to know what the worst case scenario was. Not a pleasant question. I told her that there was a small risk of a brain tumor, but that I was at least 90% certain the finding was a normal variant. I told her that I hoped she could stay optimistic until we got the MRI report to eliminate the possibility.

I got the MRI report, soon after they left, and it was normal. The pediatric ophthalmologist had referred because of the elevated disks and recent intermittent breakdown into esotropia, and a report of an episode with loss of vision. There was no 6th nerve weakness.

The photography really helped the diagnosis, The disk elevation showed no signs of edema, but I still think that the hyperemia is impressive and uncertainty remains. In a cranky child and bad view the details these discs are certainly in the gray zone between normal and abnormal.

Is it pseudo-papilledema or an early case of papilledema? If I didn't have the MRI or CT I would have wanted follow-up photographs in a week and a month.

In general, in the suspicious elevated disk there are a number of options:

1. A good exam
2. A good photograph
3. A repeated exam to eliminate the early finding.
   
4. An exam under anesthesia
5. An exam with angiography
6. A spiral CT
7. A sedated MRI.

What is the appropriate threshold for these options? I guess a good photograph goes a long way. The spiral CT can usually be done without sedation or anesthesia ? The MRI certainly gives the best information about the brain. The EUA with angiography is the best information about the retinas. I think that much of the approach depends on the child's ability to cooperate and the Ophthalmologist's confidence. Nothing is guaranteed and the question is relative risk of examination versus the disease.