“After I first sought help from a neurologist for my headaches,
it took 5 years before I finally got my diagnosis, the proper diagnosis.”

Lori’s story has features in common with many who suffer with spontaneous spinal cerebrospinal fluid (CSF) leaks. She endured years of headaches with a long delay to correct diagnosis, despite a number of clues in her clinical presentation and in her imaging. The severity of her headaches was underestimated. As a treatable cause of headache that is often very disabling, early diagnosis is important.

Her headaches, located in the back of her head, were not initially very positional. The initial diagnosis was migraine headache. She was treated with migraine medications. They didn’t help.

When her first brain MRI revealed Chiari, which is when part of the brain sits low into the spinal canal at the skull base, it was not thought to be significant. We now know that intracranial hypotension (low cerebrospinal fluid volume and pressure in head) from spinal CSF leaks can cause sinking of the brain that mimics Chiari.

A year and a half after her first brain MRI, another MRI showed subdural fluid collections, a hallmark of intracranial hypotension, but her neurologist was unfamiliar with this disorder and considered the finding insignificant. Lori read the report pushed for a follow-up MRI, which took two months to get. She did not expect calls from a neurosurgeon she had never met, in addition to her neurologist, telling her that she needed urgent surgery to drill holes into her skull to drain the blood inside her skull that was compressing her brain.

Subdural hematomas are a complication of intracranial hypotension that has been described in the medical literature for decades. But awareness of this remains low.

“I really thought that the brain surgery would be the answer.” But her headaches actually got WORSE and became more positional. Follow-up CTs of her head over the next year showed smaller but persistent subdural hematomas on both sides. After a year, she was referred to a hematologist to evaluate for a bleeding disorder as a possible explanation for the brain bleeding. The results were normal. Intracranial hypotension was not considered in the absence of awareness as a possible cause. By 22 months after the surgery to evacuate the blood, imaging finally showed that the subdural hematomas had resolved, but a small Chiari was still present. Several more months passed, the whole time being treated with migraine medication after migraine medication after migraine medication. None of them helped at all.

Finally, 5 years after she first sought help and not feeling any better, she chose to seek another opinion. It was this third neurologist that carefully reviewed her history and previous imaging to promptly make the correct diagnosis of spontaneous intracranial hypotension secondary to spinal CSF leaking. She was referred to a neurosurgeon and that is when her series of spine surgeries to repair leaking spinal meningeal cysts began (meningeal layers include dura and wrap around brain and spinal cord). One surgery was not enough in Lori’s case. Over the course of the next 3 years, she underwent 7 spinal surgeries in addition to a Chiari decompression before her quality of life was significantly and durably improved.

Spontaneous spinal CSF leaks arise in the setting of weakness of the dura, the connective tissue that normally wraps the brain and spinal cord and holds in the CSF. Heritable Disorders of Connective Tissue, including Marfan syndrome, Ehlers Danlos syndrome (EDS) and others are associated with dural weakness and spontaneous spinal CSF leaks. Lori was evaluated by a geneticist who diagnosed her with Ehlers Danlos syndrome. Several years prior to her diagnosis, Lori had had sudden onset of severe chest pain and shortness of breath that was due to a spontaneous collapse of one lung, called a pneumothorax. Ehlers Danlos syndrome is one of several underlying causes. As a teenager, with her joint flexibility, another feature of EDS, she was active in gymnastics. Imaging of her spine revealed numerous meningeal cysts, another manifestation of a Heritable Disorder of Connective Tissue. Her geneticist noted a number of additional physical findings common in Ehlers Danlos, such as a high arched palate. Chiari is also more common in EDS patients: Chiari in a patient with EDS can be primary or it can be secondary to a spinal CSF leak, or primary but worsened by a spinal CSF leak.

While Lori is doing much better overall, she has demonstrated remarkable tenacity in adapting her lifestyle to remaining limitations and a matter-of-fact “just deal with it” attitude. She works from home. She avoids heavy lifting and other activities like kick-boxing that might be a problem. She inspires others with chronic illness to focus on what they can do rather than what they cannot. She shares her story in the hope that others might not struggle for so long before being diagnosed correctly.

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With greater awareness and education of physicians, the time to correct diagnosis will shorten. As a treatable disorder, will mean less suffering.
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