Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe
Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe
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DOI：
10.3941/jrcr.v8i10.1740
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发表时间：
2014-10-01
影响因子：
1
通讯作者：
Prabhu, Sanjay
中科院分区：
文献类型：
--
作者：
Allmendinger, Andrew Mark;Desai, Naman S.;Prabhu, Sanjay
Lowe眼脑肾综合征（OCRL）是一种多系统疾病，其特征是先天性白内障、张力减退和认知发育迟缓，并在出生后的最初几个月内发生肾脏并发症。Lowe综合征的临床和实验室检查结果有很好的记录。虽然有少数病例报告描述了这种疾病的神经影像学特征和肾脏超声表现，但尚未报道对所有影像学表现的全面综述。作者介绍了一例OCRL，并回顾了这种多系统疾病的神经影像学和肾脏超声表现。
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented. Though a small number of case reports describe the neuroimaging features and the renal ultrasound manifestations of this disease, a comprehensive review of all the imaging manifestations has not been reported. The authors present a case of OCRL and review the neuroimaging and renal ultrasound manifestations of this multisystem disease.