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班纳扬-莱利-鲁瓦尔卡瓦综合征:7例患者的MRI神经影像学特征

Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.

作者信息

Bhargava R, Au Yong K J, Leonard N

机构信息

From the Departments of Radiology and Diagnostic Imaging (R.B.).

出版信息

AJNR Am J Neuroradiol. 2014 Feb;35(2):402-6. doi: 10.3174/ajnr.A3680. Epub 2013 Aug 1.

DOI:10.3174/ajnr.A3680
PMID:23907246
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7965774/
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.

摘要

班纳扬-莱利-鲁瓦尔卡巴综合征是一种先天性疾病,其特征为巨头畸形、肠道息肉病、脂肪瘤和阴茎色素沉着斑。关于该综合征的放射学文献报道有限。本研究的目的是回顾班纳扬-莱利-鲁瓦尔卡巴综合征的脑部磁共振成像(MR)表现,并将这些表现与其他同样有脑囊肿和白质病变的脑部疾病进行比较和对照。我们对我院诊断为班纳扬-莱利-鲁瓦尔卡巴综合征患者的所有脑部MR成像研究进行了回顾。所有7例患者均接受了脑部MR成像评估。MR成像结果显示,顶叶(7/7)、额叶(3/7)和颞叶(1/7)存在白质囊肿。这些囊肿主要被与巨头畸形相关的白质T2高信号所环绕。班纳扬-莱利-鲁瓦尔卡巴综合征的MR成像上囊性病变很常见,了解这种鉴别诊断有助于放射科医生对巨头畸形患儿做出该疾病的诊断。

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