Researchers at Cedars-Sinai have found that some patients diagnosed with behavioral-variant frontotemporal dementia (bvFTD) might actually have a treatable condition: a cerebrospinal fluid (CSF) leak.
bvFTD is a form of dementia where patients lose control over their behavior and struggle to carry out daily tasks.
But this study suggests that, for some, the symptoms may not be due to dementia itself but rather a leak of cerebrospinal fluid—a clear liquid that cushions and protects the brain and spinal cord.
When this fluid leaks, the brain can “sag” due to lack of support, leading to symptoms similar to those seen in dementia. Many patients with brain sagging from a CSF leak are often not diagnosed correctly, which means they don’t receive treatment that could help.
This study highlights the importance of recognizing signs that might indicate a CSF leak rather than bvFTD.
Symptoms to look for include severe headaches that improve when lying down, extreme tiredness even after a full night’s sleep, and a past diagnosis of Chiari malformation (a condition where brain tissue extends into the spinal canal).
Identifying the source of a CSF leak can be challenging. Sometimes, the fluid leaks from a tear or cyst in the membrane around the spinal cord, which can be detected through a CT myelogram. In this procedure, doctors inject a contrast dye to make the leak visible in imaging.
However, Cedars-Sinai researchers discovered another possible type of CSF leak. In these cases, the fluid leaks into a vein instead of directly through a tear, making it harder to detect on routine imaging.
To locate these more elusive leaks, doctors used a special type of CT scan that captures the movement of the contrast dye as it flows, helping to pinpoint the exact location of the leak.
In their study, the researchers used this advanced imaging on 21 patients who had brain sagging and symptoms resembling bvFTD. They identified CSF-venous fistulas, or leaks, in nine of these patients.
After surgeons closed these fistulas, all nine patients saw a complete reversal of their symptoms, and their brain sagging resolved.
For the 12 remaining patients, the researchers couldn’t find the exact source of the leak. Instead, these patients received general treatments to relieve the brain sagging, such as systems that continuously supply CSF.
Unfortunately, only three of these patients reported improvement in their symptoms, indicating that locating and treating the exact source of a leak is crucial.
This research offers hope to some patients diagnosed with bvFTD by showing that, in some cases, their condition might be treatable.
By considering symptoms that suggest a CSF leak and using specialized imaging techniques, doctors might be able to diagnose and treat patients whose symptoms could otherwise lead to a mistaken dementia diagnosis.
The study, led by Wouter Schievink and his team, was published in Alzheimer’s & Dementia: Translational Research and Clinical Interventions, adding valuable insight into the possible causes and treatments of dementia-like symptoms.
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