Chronic Pain or an Under-reported Birth Defect?

Chronic Pain

A recent medical discovery has been documented in Atlanta, Georgia last month as a patient with a chronic pain syndrome was found to possess an uncommon, and unnamed birth defect. Kristin Martin, 27, was treated for an Arnold-Chiari Malformation, which requires an invasive surgery at the lower skull and hind-brain area. However, the treatment has so far proven beneficial, as many patients around the world can now ask their doctor if their chronic pain syndrome is actually a symptom of an under-reported birth defect.

Martin was told by radiologists and neurologists, including a world-renowned surgeon from Emory, that she had neither Chiari nor any obvious signs of abnormality.

Chronic PainSurprisingly, however, upon surgical observation her doctor noticed her “entire posterior cranial fossa was asymmetrical, and one of her cerebral tonsils was hanging lower than the other.” (This is documented in the MR image on the left).

The Chiari and Syringomyelia Foundation is the lead organization in this field, and they explain Chiari as: A congenital malformation in which the lower portion of the brain (cerebellum) is crowded into the skull cavity, and forces the lower portions of this hemisphere (cerebral tonsils) into the hole at the bottom of the skull (foramen magnum). This typically causes the cerebrospinal fluid (CSF) into the spinal canal, sometimes forming a syrinx, or cavity (syringomyelia).

The neurology institute at the National Institutes of Health describes syringomyelia as a cyst that forms within the spinal cord. This cyst can expand and/or elongate over time, destroying spinal cord matter from its center. This syrinx causes compression and injury to nerve fibers that will result in chronic, severe pain, paralysis, headaches, weakness, and stiffness among other conditions. Patients with syringomyelia are cautioned to avoid straining and coughing.

Martin experienced abnormal sensations and severe pain. She also reported decreased sensations in certain areas of her body. She was previously diagnosed with scoliosis and a degenerative cervical condition, which a previous doctor ruled as the cause of her pain. However, the pain itself was the most unbearable symptom she had as she worked full-time as a nursing professional at a local hospital. She was at many points “hopeless,” and worried there would be no treatment.

This hopelessness is often reported by patients who are diagnosed with chronic pain disorders, where as Chiari patients, though likely under-reported, have a more permanent solution.

Martin’s neurosurgeon, Dr. Hart, recognized a unique malformation on the magnetic resonance imaging (MRI) scan. “It is an abnormal arachnoid sac that fills up with proteins over time.” This causes hindered CSF flow that can be noticed through video imaging or cine MRI.

This particular malformation is not obvious to most neurologists because it “blurs during MRI” scans as the CSF pulsates–pushing the arachnoid webbing around like “tissue paper.” This could lead to assuming there is open space at this spot on the scan.

Hart says this is not the first abnormality he had to correct that threads the fine line of Chiari and an “other” diagnosis. Hart also says this birth defect has yet to be named.

Although the patient was told by more than one doctor that her cerebellum was not herniating (and therefore not Chiari), the doctor found during surgery that she was around 3mm herniated. This poses a struggle for medical professionals when using the MRI to diagnose “neuro” patients. Many are told they may have idiopathic syringomyelia, or no Chiari, and are unable to otherwise tell if they have any malformation without exploratory surgery.

Several patients with syringomyelia have also reported previously being diagnosed with a chronic pain disorder before a spinal MRI scan revealed a syrinx.

Martin had one hospital re-admittance for a minor CSF leak that did not require surgical intervention. This is a common complication following a decompression and ranges in severity. The patient has reported improved symptoms five weeks post-op. She is now grateful for this surgical treatment for an under-reported birth defect as it has already relieved some of her chronic pain symptoms.

By Lindsey Alexander

Sources:

NIH

CSF

Direct Correspondence: Dr. Hart;
Patient Kristin Martin

4 Responses to "Chronic Pain or an Under-reported Birth Defect?"

  1. Vikki   February 27, 2015 at 11:51 am

    In my opinion, this condition has nothing to do with the size of the herniation – some have 4mm with very severe symptoms; others could have 18mm and no symptoms at all. For me, it was a rather noticeable 15mm herniation, which at least meant that my neurologist referred me immediately for foramen magnum surgery. 18 months and 2 VP shunts later I am still taking pain meds and anti-sickness drugs – I guess the thing to remember is that there is no cure, and any surgery is just to stop the symptoms worsening and halt the possibility of paralysis. I just wish that more people knew about it, especially health professionals.

    Reply
  2. Jen Cotroneo   April 28, 2014 at 9:53 am

    I need any help I can get if someone can contact me! I have been going through this same thing for too long, and I learned to take control and help myself. The severe pain and constantly being brushed off and misdiagnosed is just sickening. Syringomyelia is painful enough, and I have so may other symptoms that no doctor can “figure out”. There are days that I feel like my bones are breaking. This article may have just saved me. Any information would be AWESOMEEEEEE!!!!! Thank you!!!

    Reply
  3. Bella   April 26, 2014 at 1:14 pm

    I was dismissed by the Chief Neurosugeon at Emory as not having Chiari. I was so blessed to find a True Chiari Expert in Hendersonville, NC. I had my decompression and I’m so happy the doctors at Emory didn’t touch me. Atlanta needs a Chiari Specialist who knows what they’re doing. Where is this Dr. Hart? I’d love to have someone to recommend to my dear Chiari sisters and brothers who deserve help. I pray for the day Emory learns not to diagnose Chiari by CINE MRI! My cranial nerves, brainstem and spinal cord were compressed! That has nothing to do with fluid flow. So happy to hear that this doctor was able to help one of our Chiari Sisters 🙂

    Reply
  4. Pamela   April 25, 2014 at 6:34 pm

    It’s so incredibly frustrating that we have this condition and these Dr’s don’t listen to us.
    My story:
    I’ve had “issues” for over 25 years and in July 2013, I finally asked to be checked for Chiari Malformation. My niece was decompressed in 2009 and I just refused to see that my symptoms were just like hers. I finally couldn’t take the choking, coughing, blinfing headaches and blacking out every time I coughed anymore, so I asked Kaiser to do an MRI and told the PA neurologist what I suspected. I was correct, I had a 7mm herniation into my foramen magnum. From there, I was referred to a neurosurgeon in July, who scheduled a second MRI and brain surgery for October. At my pre-op appt, this neurosurgeon tells me that I don’t need surgery now, I only have a 5 mm herniation and I have plenty of room and he has no idea why I have so many symptoms but they are not related to Chiari! Really? One week before brain surgery and my second MRI was in July. So I ask for a second opinion, since he was the chief of the NS dept in Fontana Kaiser, I obviously want to go elsewhere. Kaiser would not allow me to go outside their network so they sent me to L.A. This new NS says first off, he doesn’t understand why I am there, he has had cases much worse than mine, where the herniation was 18 mm down the middle of the spine and that my symptoms are not Chiari related. Please keep in mind, I’ve done my research, I’ve read and watched Dr Oro, of the Chiari Institute in Colorado, papers, blogs and videos. Other legitimate websites and asked 100’s of Chiari sufferers what they have experienced and I have EVERY SINGLE SYMPTOM. This neurosurgeon sends me for a seizure test (EEG) and refers me to a neurologist whose first words to me were “I don’t know why your here, I don’t treat Chiari and your seizure test is negative” I’m sending you to a cardiologist and a pulmonary Dr because you don’t have a Neuro problem. I was so upset with him, Kaiser had already checked my heart, my lungs, my carotid arteries, my kidneys and I had an endoscopy done. This is all in my chart and all of my tests came out great! I’m add healthy add can be, except for all the symptoms that present themselves. The neurologist wouldn’t listen to us try to explain what I was experiencing, he just kept saying, you don’t have a Neuro problem and coughing has nothing to do with Chiari.

    These Dr’s don’t have a clue about Chiari Malformation. They refuse to believe anything the patient tells them because the patient is not allowed to be more knowledgeable than them. Both my nieces and my sister have all been diagnosed with Chiari, but the NS in L.A. tells me that in no way does Chiari Malformation run in families. But if you visit the Chiari Malformation page on Facebook, more than 30% (estimated) of its members have family members that have been diagnosed. It’s time that these Drs learn about Chiari, how to treat it successfully and most importantly how to listen to their patients. Chiari Malformation can be deadly. But because of the frustration that we get from the medical field, many end their own lives, which is so unnecessary.

    We, Chiarians, really want to get the word out and educate the public about our condition. It took me 43 years to get dx and I am nowhere near getting the help I need because of the inefficient medical knowledge and unwillingness to be open to learn about our condition outside the text book.

    Thank you for reading

    Pam Rory
    Southern California

    Reply

Leave a Reply

Your email address will not be published.