Although Gail and her son had never heard of Chiari, it is not a rare condition.
It affects one in every 1,000 to 1,200 individuals, though many of these individuals show only subtle symptoms.
An MRI of the brain shows the tonsils (arrow) herniating through the foramen magnum (yellow line).
In retrospect, Gail’s symptoms had been with her for much of her life. She remembers having headaches as a child, coming home from elementary school and going straight to bed. She was thought to suffer from migraines. Later, she was told she had fibromyalgia. Gail, who has worked as a dental hygienist for 25 years, coped with the pain and kept going.
The first sign that she might have an entirely different disorder came from her son, Ashley, when, one morning in the spring of 2008, he woke up with an unusually sore neck. Ashley, in his early 30s, thought he had a muscle strain or had slept in an uncomfortable position, but as the day wore on he sensed it was something worse. “My husband was fearful that it was an aneurysm,” Gail says. “So we took him to the emergency room. They did a CT scan and found the Chiari malformation. We had never heard of a Chiari. They had to explain to us what it was.”
Chiari (pronounced kee-AR-ee) I malformation is a disorder in which the bony space enclosing the lower part of the brain (cerebellum) is smaller than normal, causing two small portions of the cerebellum (the cerebellar tonsils) to migrate into the spinal canal. If the cerebellar tonsils obstruct the opening (foramen magnum) that connects the brain to the spinal cord, the flow of cerebrospinal fluid can be blocked. Instead of moving in an easy, pulsating movement through the foramen magnum in three channels, the fluid can begin to force its way through the center – like a water hammer – pushing the cerebellar tonsils down even farther and exerting pressure on the lower stem of the brain.
Symptoms can appear at birth or late in life. The first symptom, which is pain, emerges once the blockage is sufficiently severe. A Chiari I malformation often goes undiagnosed until adulthood, because symptoms are delayed or misinterpreted. (The more severe Chiari II and III malformations commonly affect infants.)
Although Gail and her son had never heard of Chiari, it is not a rare condition. It affects one in every 1,000 to 1,200 individuals, though many of these individuals show only subtle symptoms. If there is an inherited pattern to Chiari I malformation, it is not known. At the same time, the condition may affect multiple family members.
Ashley and Gail would become the fourth family cluster of Chiari patients treated by Dr. John M. Tew, a Mayfield Clinic neurosurgeon and Clinical Director of the University of Cincinnati Neuroscience Institute.
The treatment for patients with Chiari who are experiencing severe pain or other debilitating symptoms is surgery. Through the parents of a friend, Ashley found his way to Dr. Tew, who sees 60 to 80 patients with Chiari malformation each year and operates on about half of them. After taking Ashley’s medical history, conducting a physical exam, and acquiring data from MRI scans and a cine-flow study, which measures the flow of cerebrospinal fluid through the foramen magnum, Dr. Tew confirmed the diagnosis and scheduled Ashley’s surgery at Cincinnati’s University Hospital.
Seeking to relieve the progression of symptoms and the compression of the brainstem and cranial nerves, Dr. Tew performed a posterior fossa decompression. During the procedure, he removed the bone at the base of the skull and the top of the neck and widened the area at the base of the cerebellum to provide more room for the brainstem, spinal cord, and the descended cerebellar tonsils. He then sewed a tissue graft taken from the neck over the expanded space, allowing for the restoration of the normal flow of cerebrospinal fluid.
“Ashley told us that, looking back, he had noticed symptoms for two years,” Gail says. “But he had been afraid to say anything. He thought he had Michael J. Fox symptoms – Parkinson’s disease.”
Ashley’s symptoms vanished with surgery, and it became clear to him that his mother was not suffering from fibromyalgia. “I’ll bet you have what I had,” he told Gail. “You need to go get checked.”
Gail procrastinated until a fierce headache that lasted through a weekend finally prompted her to see her doctor, who prescribed an MRI. The results were exactly what her son had predicted: a Chiari I malformation.
“You know a good neurosurgeon, don’t you?” continued the doctor, who knew about Ashley’s experience.
Gail replied, “Yes sir, I do.”
Hope Story Disclaimer - "Gail's Story" is about one patient's health-care experience. Please bear in mind that because every patient is unique, individual patients may respond to treatment in different ways. Results are influenced by many factors and may vary from patient to patient.