Abstract
Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the penis. There is limited published radiologic literature on the syndrome. The purpose of this study was to review the brain MR imaging findings in Bannayan-Riley-Ruvalcaba syndrome as well as to compare and contrast the findings with other brain disorders that also have brain cysts and white matter lesions. All brain MR imaging studies were reviewed in patients with a diagnosis of Bannayan-Riley-Ruvalcaba syndrome from our hospital. All 7 patients were evaluated with brain MR imaging. MR imaging results showed white matter cysts in the parietal lobe (7/7), frontal lobe (3/7), and temporal lobe (1/7). These were predominantly surrounded by white matter T2 hyperintensities associated with macrocephaly. Cystic lesions on MR imaging in Bannayan-Riley-Ruvalcaba syndrome are prevalent, and knowledge of this differential diagnosis can allow the radiologist to suggest a diagnosis of this condition in a child with macrocephaly.
Highlights
We have reviewed the neuroimaging features of 7 patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS)
We based our diagnosis heavily on the presence of cardinal features of macrocephaly, developmental delay/autism, characteristic triangular facial feature, prominent forehead, malar hypoplasia, down-slanting palpebral fissures, myopathic features, and pigmented macules of the glans penis associated with the phosphatase and tensin homolog gene (PTEN) mutation
CONCLUSIONS a rare syndrome, the cystic lesions seen on brain imaging findings in BRRS are quite prevalent
Summary
The purpose of this study was to review the brain MR imaging findings in Bannayan-Riley-Ruvalcaba syndrome as well as to compare and contrast the findings with other brain disorders that have brain cysts and white matter lesions
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