The Brain is Important: CHOP Expert Discusses False Brain Tumor Syndrome

The work of The Children’s Hospital of Philadelphia’s Shana E. McCormack, MD, was recently featured on Pediatric Research’s “Pediapod” podcast. Dr. McCormack spoke to host Charlotte Stoddart about her review of pseudotumor cerebri syndrome, also known as false brain tumor, in which patients experience the symptoms of a brain tumor despite not having one.

The condition, said Dr. McCormack, is “caused by an increase of the pressure in the fluid surrounding the brain, the cerebrospinal fluid, and it occurs in the setting of that increased pressure but without an actual tumor or other apparent cause of pressure around the brain.”

If left untreated, pseudotumor cerebri syndrome (PTCS) can lead to permanent vision loss, she noted. Precisely what causes the increase in pressure remains an area of investigation, and can develop as consequence of obesity or other conditions, hormonal associations, anemia, and vitamin toxicities, Dr. McCormack said.

“The brain is a really important organ. It’s sensitive to high pressure, but it finds itself in a closed box, a closed space, it finds itself in a skull,” she noted. “So if the pressure goes up by a little, that’s a big risk to the brain, so the brain has several really important conserved mechanisms for maintaining normal pressure in the brain, but we don’t really understand what they are.”

PTCS is most often seen in obese women of childbearing age; this predilection is also seen in late adolescents, Dr. McCormack pointed out. However, the situation in children is different.

“What’s really interesting is that before puberty, instead of being a predominantly female condition there’s an equal mix of affected girls and boys. And before puberty children tend not to be obese, children tend to be normal weight. So it adds to the complexity of understanding this condition, that it changes so significantly over the lifespan.”

The podcast follows Dr. McCormack’s publication of a review of PTCS, in which she and Children’s Hospital’s Grant T. Liu, MD, among others, examined the mechanisms of how the condition arises, hypothesizing that mitochondrial metabolites — which have been shown to regulate fluid in the kidneys — could play a key role in pseudotumor cerebri syndrome.

Though she cautioned treatments are not immediately forthcoming, Dr. McCormack did say work like the Pediatric Research review could be a “springboard” to future work.

“I think we are closer to designing the kind of studies that will produce helpful biomarkers,” Dr. McCormack said. “As a pediatric clinician if I could come up with a blood test to measure cerebrospinal fluid pressure … I think that would really be amazing and would really be a benefit to our patients.”