Brain and blood vessel problems found in people with Gorlin syndrome
Original title: Central nervous system, cranial, and cerebrovascular conditions beyond the Kimonis criteria in patients with Gorlin syndrome: a retrospective cohort study.
How far along is this research?
- Lab cells
- Animals
- Review
- Tested in people
This was tested in people. That is the most reliable kind of research we share.
Doctors only looked back at patient records, so this is not a new treatment.
The short version
Some people with Gorlin syndrome had brain or blood vessel problems that the usual checklist does not cover.
What was studied. Doctors looked back at the records of 32 patients with Gorlin syndrome at hospitals in Japan. They checked for problems of the brain, the skull, and the blood vessels in the brain.
What they found. A change in the PTCH1 gene was found in 24 of 32 patients. Eight patients had 10 findings, covering eight different conditions. These included hydrocephalus: Fluid building up inside the brain because it cannot drain the usual way. It raises the pressure in the skull. There are treatments to let it drain again. See the glossary, Chiari malformation, syringomyelia, moyamoya disease, and a stroke. Four patients had surgery on the brain or on blood vessels.
What this means, and what it doesn't
What it could mean: Tell your doctor about any new brain, breathing, or neck symptoms. Knowing these problems can happen may help your doctor choose the right scan.
What it doesn't mean: This does not mean these problems are common. The doctors only read old records of 32 people. They did not scan everyone, so the study cannot say how often this happens. It does not prove Gorlin syndrome caused the problems. The authors say people with no symptoms do not need routine brain scans. This is not a new treatment and not a cure.
Source: PubMed, October 6, 2026 · Read the original
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