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.
Surprisingly, 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
Direct Correspondence: Dr. Hart;
Patient Kristin Martin