Medicine: An elusive diagnosis

Right away, Lori White knew something was wrong. The 44-year-old legal assistant at a northern Virginia law firm had been working out at her gym. As she pulled down on a bar equipped with weights while simultaneously lunging forward, she felt an explosive pop in her head, immediately followed by a headache more crushing than any she had previously experienced.

For the next ten minutes, White recalled, she sat on the floor, clutching her head and fearing she would throw up or pass out. To her relief, the pain receded in a few hours. "I figured I'd just strained something," she recalled. But within weeks of the 2005 episode, an alarming new problem surfaced: stabbing pains lasting 5 to 30 seconds in the front of her head, similar to the "brain freeze" that people sometimes experience while eating ice-cream. It took White three years to discover what had happened that day at the gym and two more to sort out what should be done about it — a confusing and sometimes contradictory process.

Recently, at Georgetown University Hospital, White underwent treatment. "It's been such a frustrating and painful battle," she said. "For a long time," she said, "I don't think anyone took me seriously."

Triggered by movement

The piercing head pains seemed to be triggered by movement: coughing, sneezing, bending over, laughing or even singing. Sometimes a change in the weather or altitude would unleash them. Although intense, they were, at first, brief and would vanish for weeks at a time.

White consulted a neurologist in Fairfax County. The doctor performed a basic examination and took a history but offered little in the way of a diagnosis. A second neurologist, in Chevy Chase, Maryland, seemed baffled. His advice: Avoid caffeine to see if the problem clears up. It didn't. So in 2008, White went to see a third neurologist. He ordered an MRI scan and told her she might have a "cough" headache, triggered either by straining or, in some cases, by disorders involving the skull.

By then, White said, she worried that the cause of her headaches might be serious. When she received the MRI results, she saw a brief reference to a "borderline chiari". After searching the internet, she discovered that one of the causes of a cough headache is a Chiari 1 malformation of the skull. These malformations occur when brain tissue from the cerebellum protrudes into the spinal canal, the result of a congenital deformity that may not appear until adulthood. In some cases, the problem is mild, does not have symptoms and is picked up as an incidental finding during imaging. In most cases, the skull is abnormally small or misshapen, particularly at the back, according to the Mayo Clinic website, one of the sources White consulted.

The brain tissue can obstruct the flow of fluid that bathes the brain and spinal cord, disrupting signals transmitted to other parts of the body and causing serious neurological problems, including paralysis.

Armed with pages of research, White returned to the third neurologist and asked him whether he thought a Chiari 1 malformation might account for her head pains. White said the doctor looked at her MRI, glanced at the papers she had brought and dismissively replied: "It couldn't be that."

"At this point," White recalled, "I began to think I was losing my mind." She made an appointment with a Baltimore neurosurgeon. He sent her for a second MRI and two weeks later called to confirm the Chiari diagnosis — the condition had, in all likelihood, been triggered by that gym exercise — and said he "would be happy to do surgery whenever you would like".

White was flummoxed: When exactly did a person decide she wanted to undergo brain surgery? She had read that doctors do not necessarily operate on Chiari malformations, which are sometimes treated with medications and regular monitoring. And she wondered whether her problem might be caused by something else, particularly if the condition was "borderline", as the first MRI indicated. Surgery involves cutting through the skull and carries obvious risks, including infection. But the disorder can be progressive and waiting can result in complications that include the development of a syrinx, a cyst or a cavity in the spinal cord that fills with fluid. In such cases, surgery is considered a necessity. White drove to Charlottesville to consult a neurosurgeon to see if surgery was advisable. The specialist ordered an MRI of White's cervical spine to check for evidence of progression, including a syrinx but tests revealed no syrinx and the doctor recommended a repeat MRI in a year. White said that by then, the stabbing episodes had started occurring 20 to 30 times a day and that she had a constant headache.

She headed home and then visited Mahan Chehrenama of the Neurology and Headache Treatment Centre in Alexandria, who ordered a different kind of MRI, designed to assess the flow of spinal fluid to check for blockages. She told White the latest scan had revealed a syrinx and that surgery within the next six months was necessary to prevent "an acute neurological event". Without the operation, White could become paralysed. The procedure, called a decompression, would involve removing a small section of bone at the back of White's skull, along with a portion of the top vertebrae, and opening the dura, the outermost membrane that covers the brain, to relieve pressure. A patch using a piece of cow heart would be sewn over the expanded opening; this would give the brain more room inside the skull, thereby restoring the proper flow of spinal fluid, eliminating the syrinx and hopefully, stopping her headaches.

Treating Chiari cases, said Chehrenama, who has seen 20 patients with the condition, can be tricky, because it requires balancing the risks of waiting against the risks of surgery. The syrinx tipped the balance.

She went back to Georgetown neurosurgeon Christopher Kalhorn and scheduled surgery. The three-hour operation was performed in October and recovery was expected to take about two months.

White still has a headache — to be expected for someone recuperating from brain surgery — but the brain-freeze pains have now disappeared.