The Teaching Point

Radiologists and clinicians should be aware that delayed myelination, dilated perivascular spaces, confluent white matter T2 prolongation and multiple small cystic lesions on neuroimaging, and medullary nephrocalcinosis on renal ultrasound are nonspecific if not taken in the appropriate context. The combination of these imaging manifestations is particularly useful in aiding in the diagnosis, as both renal and cranial imaging manifestations are typically not seen in peroxisomal, lysosomal and other pediatric white matter diseases, which clinically appear similar to OCRL.






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From the manuscript

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

Free full text article: Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

Abstract
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.






References



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