I am a physician in Texas hoping that some of my thoughtful physician colleagues or other medical professionals will be able to help me with my son's MYSTERY DIAGNOSIS. (I know that it will take time to consider this information and the financial reward I am offering is very real.)
My son, Austin (photo on right), has been suffering from bilateral eye pain and frontal head pain for 37 months. This constant, 24/7, unrelenting eye pain has become totally disabling causing him to withdraw from college and almost all other activities.
We have seen many excellent physicians across the various specialties who have done careful evaluations. Unfortunately, despite all of these efforts, his diagnosis remains in doubt by many and none of the medical or surgical treatments have alleviated the intractable eye pain (Eye Pain is predominate).
He has missed most of his first 3 years of college and is desperate to return to school and continue living his life. Living with intractable pain that never ceases has been sheer misery for my son.
I am more than happy to travel anywhere to consult with anyone who might help us find a clear etiology for the eye pain and effective treatment.
BRIEF MEDICAL OVERVIEW:
When his symptoms began, my son was an 18 year old thin, athletic male, with no medical problems. He had been on Accutane for about 6 weeks in early 2009 when he began complaining of difficultyfocusing and reading and then a constant aching eye pain which was made worse by reading or "using his eyes". At the time, he was a senior in high school playing varsity baseball and working our VERY strenuously.
We began to see various ophthalmologists. After eight months and 9 ophthalmology specialists (including 3 neuro-ophthalmologists ) the work ups had been negative. We had normal exams, normal visual fields, normal MRI, MRV, MRA, but did not have a diagnosis. (Of note is the fact that he did not have any evidence of papilledema or vision loss). An ophthalmologist, who is a close personal friend, suggested a Lumbar Puncture in Nov. 09 which showed an opening pressure of 320 mm H2O. (Normal is usually <200 and they told us most young healthy males would be 110 or 115.) The diagnosis some gave him then was Pseudotumor Cerebri or Intracranial Hypertension without papilledema.
He had 3 more LP’s one week apart and all showed pressures at about 300. (These were done by an anesthesiologist who does many LP’s under fluoroscopy in the O.R. in lat. decub. with sedation.)
He was started on meds and was pushed up to 3000 mg of Diamox / day as well as, eventually Lasix, Topamax, and Indocin without significant relief from the continued pain in his eyes and frontal region.
The red represents the area where he feels pain
In May 2010 with eye and head pain all day - everyday that was not relieved with any of the meds, in desperation he underwent Retrograde Cerebral Sinus Venogram at Barrow Neurological Institute in Phoenix which showed very high measured venous pressures ( eg. anterior sagittal sinus pressure was 27 mmHg) but did not show a venous sinus stenosis in the head (the neck was not imaged) The high venous pressure seemed to go down gradually to the right atrium at about 14 mmHg .....(which was considered a high pressure for a young healthy male)
(The following diagram is borrowed from an article that noted that increased CSF pressure
is essentially always associated with high intracranial VENOUS pressure )
Because of the refractory head and eye pain (and the fact that the venous pressures were high) a neurosurgeon performed a Lumbo Peritoneal shunt with a programmable valve.
After the surgery my son said that the “pressure behind my eyes seems less” and “I can move my eyes around easier”. But the eye pain, which has always been worse with reading, and the headpain were otherwise the same.
The shunt failed several days after we returned to Texas, and a neurosurgeon here revised the shunt and put in a new valve.
He had the typical low pressure symptoms for a few weeks after the LP shunt, but these completely resolved and he continues to have the same intractable pain in his eyes and head even now with the CSF pressure down to "normal" levels. ( He points out to physicians that these are not episodic headaches, but that this is one long continuous eye pain and pain in the “front” of his head. The only time he has not had this constant pain in the last 18 -24 months is when he has had general anesthesia. )
Because he is very muscular, the LP Shunt Valve and tubing in the subcutaneous tissue are visible..... very superficial under the skin
The valve has been set to the higher pressure settings and the lower pressure settings and everything in between without any change in his constant eye and head pain.
The pressure in the LP valve has been checked through the dome with a butterfly needle and a manometer on 2 occasions and found to be exactly as the programmable setting would indicate currently 160 mm H2O
He has been put on Neurontin and after pushing this to 1800 mg/day for 3 months he became sluggish and dizzy but had no discernable relief of the eye and head pain. The neurologists and ophthalmologist have now tried many other meds without relief.
In September, 2010 he was admitted to the hospital by a neurologist who is a “headache specialist” for IV meds to try to “break the cycle” of head and eye pain. He got IV DHE, Valproate, Magnesium, Decadron, and Indomethacin. After the full course of treatment he said he felt “drugged” but unfortunately had no pain relief. (Eventually the dihydroergotamine gave him an arrthymia and treatment was stopped after 3 days of these IV meds.)
Since this admission, another doctor put him on a 2 week trial high doses of oral steroids. He had no improvement in the pain with the high dose oral prednisone.
In December 2010 he was referred for a trial of neuro-stimulators. These were placed in the operating room. Then for 72 hours he tried every frequency and intensity without any relief.
Also a “transcranial doppler” was performed at Baylor along with a “bubble test”. The “ bubble test” or “ transcranial Doppler bubble emboli monitoring” was positive and showed a grade 4 right to left atrium shunt but only with valsalva or deep inspiration. This is currently - presumed by the cardiologist to be a small insignificant patent foramen ovale. (It should be noted that an Echo of his heart with a bubble test and valsalva did not show a cardiac septal shunt. So the location of this arterio-venous connection is not certain.)
to see the full report click here: Transcranial Doppler Bubble Test
Beginning in the spring of 2011, he had a full workup at UT Southwestern Medical School that included consultations with Neuro-ophthalmology, Neurology, Cardiology, Psychiatry, Neurosurgery and other specialists. The positive bubble test was again performed and was again positive with valsalva.)
Cerebral Arteriogram and Retrograde Cerebral Venogram with pressure measurements was performed by the Neuroradiologist. The arteriogram was normal except for small possible aneurysms inside the cavernous sinus BILATERALLY with R>L . (This was not seen on the MRA)
The cerebral venogram revealed pressures in the sagital sinus of about 15 (normal in some papers is 2-7 mmHg) and external compression of the left internal jugular vein just below the cranial base, and possible narrowing or compression at the base of the right internal jugular vein at the thoracic outlet.
High intracranial venous pressures might explain the high CSF pressures in a thin Male ?
(An article appeared in 2011 that showed a rare condition that could compress the internal jugular veins coming out of the skull and lead to high venous pressures in the brain and therefore high CSF pressures. )
Another cerebral venogram at Barrow in 2012 showed that the flow and pressures in the internal jugulars were very positional. eg. when he turned his head to the right, all flow stopped in his right internal jugular and the venous pressures about this went up into the mid 20's . Because my son's intracranial venous pressures were still somewhat high especially with certain head positions, he has now undergone surgery at the skull base to try to decrease intracranial venous pressures. He has also had decompression of the internal jugular vein on the right side at the base of his neck with resection of the head of the clavicle. None of these procedures have provided relief of the pain thus far. The most recent MRV with contrast seems to show that the right internal jugular is still severely compressed just below the skull base. (see images below and in image tab above left)
Normally there is a great deal of variability in the venous return from the head, and we know that usually there is more than enough collateral flow or alternative venous flow besides the internal jugulars. But he did originally have high intracranial venous pressures, and this increased resistance to venous flow could perhaps cause high CSF pressures. We do not know if these MRV findings are significant.
If high CSF pressure were causing his pain, it would seem that the LP shunt which has lowered this pressure would relieve the pain, .... but it has not. Tapping the shunt currently and drawing off a large amount of CSF also does not diminsh the pain. (the taps show the pressure is at the setting of the valve 160 mm H2O) Could this mean that the higher venous pressure is somehow causing the pain? We do know that a very low salt diet has helped him and a large salt meal makes him feel much worse the next day. Also wearing anything around his head that put pressure on the forehead or eye area makes his pain worse (baseball cap, sweat band, etc.) and the tighter it is, the worse he feels. We are, of course, wondering if the heat to his face that makes his pain better is vasodilating collaterals in his face and tight baseball caps are occluding collaterals from his scalp etc.
We just don't know what is causing the constant, intractable eye pain and forehead pain (trigeminal V1 area).
Also, in early 2012 we were referred to Georgetown University Medical Center where a microsurgeon operated to decompress his supraorbital and supratrochlear nerves though an upper blepharoplasty incision. The pain was much worse for about 2 weeks post operatively and then went back down to baseline.
In addition he has had stellate ganglion blocks both Right and Left, thoracic sympathetic blocks, sphenopalatine blocks, occipital nerve blocks, and even retro-orbital blocks trying to identify a source of the pain pathway. None of these has provided pain relief.
My son has always until now been healthy. He has no other medical problems (other than an episode of rather severe pneumonia treated with oral antibiotics about 6 mo. prior to these sx.) He has never complained about anything in the past. He says he never had a headache before these sx occurred more than 3 years ago.(no migraine history etc.)
A few additional “clues” to his sx:
He had amblyopia as a child and his left eye was patched for about one year as a 3 year old.
He is a high myope (very near sighted) with glasses that are -8 and -9 and significant astigmatism in his right eye. Before this started he wore contact lenses to play sports but never read in them. He always took them off and put on glasses to read. Currently he uses his "strong glasses" to see normally and his "weak glasses" to look up close for brief periods of time or to "rest his eyes"
Originally, his eye pain was predominant for about 5-6 months until the frontal head pain became an almost equal problem.
It has always been worse with reading and he uses weaker glasses to try to read (which he can only sustain for about 5 minutes because the aching pain in his eyes becomes more intense.)
He has always said that the pain in his eyes is a “constant deep, aching pain” always equal bilateral (never unilateral, never in the back of his head).
(The red represents the area where he feels pain)
His head and eye pain are not throbbing.
It has never been worse with straining or valsalva, as is the case with many who have pseudotumor or IIH.
He feels like his ears are continually full or “stopped up” (ENT exam x 2 is normal). He also feels like his nose is always "partly congested" or "stopped up". When he has had a viral upper respiratory illness or "cold" and his nose is more congested, the pain was worse.
Every time he has an eye exam and is dilated, he has noted that the pain improves about 10- 20 % . This has been a consistent finding for more than 2 years and about 14 separate eye exams. (At the recommendation of one ophthalmologist ,we tried to continually dilate his eyes for 2 weeks but this did not seem to alleviate the pain beyond the 20% and the effect seem to wear off in a few days.)
He has noted, since the beginning, what he calls “wincing pain”. This is not always present. He describes this as a sharp increase in pain when he closes his eyes strongly or winces. One time in this past summer he said that the “wincing pain” went all the way up his forehead on both sides to his scalp. Because of this one time symptom he has had supraorbital and infraorbital blocks without relief. Also supra - trochlear and infra-trochlear, and occipital blocks have been placed without relief.
When he looks up and left AND blinks hard or "winces" ......or looks down AND winces he feels a sharp surge of the pain in his eyeballs.
Surge of pain when he looks up AND winces or frowns, or looks down AND winces
If He looks straight ahead and winces he feels NO surge of pain. Although this eye position for "wincing pain" is consistent, we do not have a mechanical explanation for this.
We don't know why he can induce this strong, surge of pain in his eyeballs with certain eye position, AND
We don't know why looking straight ahead or straight laterally and "wincing" induces NO surge in the PAIN.
He has said since the beginning "there is something back there behind and between my eyes pulling or pushing on me causing this pain"
Since he first struggled with this pain in college, he has taken 4 or 5 hot showers a day or put his face in hot water or hot compresses directly on his eyes. When he puts his face in hot water, he says the pain melts down 20 to 30 % and the "wincing pain" goes completely away. (He cannot elicit this surge of pain with forceful blinking.) This partial relief with heat to his eyes/face happens within 3 to 5 minutes and the ability to illicit the wincing pain is gone for 3 - 5 hours. He can always get rid of the "wincing pain" in this way.
Heat helps ! ?
The fact that heat helps has been consistent for the last 3 years.
(Of special note is the fact that when he had his 3rd molars removed in Dec. 2009 by an oral surgeon, he woke up saying his pain was "almost gone". This lasted through the rest of that day until the Marcaine wore off. We have tried several times to repeat whatever was blocked without success.)
This is post op after exploration of the lower portion of his right internal jugular vein and resection of the head of the clavicle to try to lower intracranial venous pressure.
Again, we don't know if this jugular compression is significant or not.
Austin enjoys school and is an excellent student (eg, perfect score on the SAT in math).
He had a full academic scholarship but has had to withdraw from college to his great dismay.
We would appreciate any helpful insight you might have. Any suggestions, any question
You may contact me by posting on the comments page at the top left OR
email me at: PleaseHelpMySonEmail@gmail.com or firstname.lastname@example.org We have attached just a few medical articles (of the dozens we have pulled) that may be related or useful in the : related articles section
Please forward this email or send a link to this site to any Ophthalmologist, Neuro-Ophthalmologist, Neurologist, Neurosurgeon, NeuroRadiologist, Cardiologist, or other colleague with expertise and experience that might be able to help.
I am very sincere about the $50,000.00 reward for help that leads to a clear diagnosis, relief and a normal life.
I will be so very grateful for any help you can offer.
A Father seeking any way to help his son.