title: Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.
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.
authors.affiliation: From the Departments of Radiology and Diagnostic Imaging (R.B.).
authors.forename: R
authors.initials: R
authors.lastname: Bhargava
authors.forename: K J
authors.initials: KJ
authors.lastname: Au Yong
authors.forename: N
authors.initials: N
authors.lastname: Leonard
mesh_terms: D001927:Brain Diseases / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000473:pathology*; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D059906:Neuroimaging / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
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