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Research ArticlePediatrics

Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

R. Bhargava, K.J. Au Yong and N. Leonard
American Journal of Neuroradiology February 2014, 35 (2) 402-406; DOI: https://doi.org/10.3174/ajnr.A3680
R. Bhargava
aFrom the Departments of Radiology and Diagnostic Imaging (R.B.)
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K.J. Au Yong
cDepartment of Radiology and Diagnostic Imaging (K.J.A.), McMaster University Medical Centre, McMaster Children's Hospital, Hamilton, Ontario, Canada.
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N. Leonard
bMedical Genetics (N.L.), University of Alberta Hospital, Edmonton, Alberta, Canada
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    Fig 1.

    1, Axial T2 image in patient 1 demonstrates bilateral cystic spaces in the biparietal periventricular white matter. 2, Axial T2 image in patient 2 demonstrating small cystic spaces in the parietal white matter associated with increased T2 signal of the periventricular white matter. 3, Coronal T2 image in patient 3 demonstrates cystic spaces in the periventricular white matter of the parietal lobes. 4A, Axial T2 image in patient 4 demonstrates bilateral small parietal periventricular cyst associated with white matter T2 hyperintensities predominantly around the cysts. 4B, An axial FLAIR image in patient 4 demonstrates pericyst hyperintensities and suppression of the VR space fluid. 5, Coronal T2 image of patient 5 demonstrates a well-defined small periventricular cyst in the parietal region. 6, Coronal T2 image in patient 6 demonstrates a well-defined small periventricular cyst in the left parietal region. 7, Coronal T2 image in patient 7 demonstrates small periventricular cysts in the biparietal region.

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  • Summary of MRI and clinical characteristic of 7 patients diagnosed with BRRS

    Patient No.SexAge at MRI (y)MacrocephalyMutation PTENDevelopmentPhysical FeaturesWM CystCyst Location
    1M4YesYesAutisticAbdominal hemangiomaYesf,p,t
    2M0.65YesYesDelayCafé au lait spot, thyroid nodules, testicular hamartomas, rectal and gastric polypsYesp
    3M2.7YesNo proteinAutisticMotor speech disorderYesf,p
    4M3.590th centileNo proteinDelayCafé au lait spotYesp
    5M2.6YesNo proteinDelayMoles, thyroid nodules, intestinal polypsYesp
    6M7.7YesNo proteinDelayMoles, thyroid nodules, intestinal polypsYesp
    7M7.7YesYesDelayPigmentation of the glans penis, multiple thyroid nodules, and carcinomaYesf,p
    • Note:—f indicates frontal; p, parietal; t, temporal.

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American Journal of Neuroradiology: 35 (2)
American Journal of Neuroradiology
Vol. 35, Issue 2
1 Feb 2014
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Cite this article
R. Bhargava, K.J. Au Yong, N. Leonard
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
American Journal of Neuroradiology Feb 2014, 35 (2) 402-406; DOI: 10.3174/ajnr.A3680

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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
R. Bhargava, K.J. Au Yong, N. Leonard
American Journal of Neuroradiology Feb 2014, 35 (2) 402-406; DOI: 10.3174/ajnr.A3680
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