title: 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.
authors.affiliation: Department of Neuroradiology, Brigham and Women's Hospital, Boston, USA.
authors.forename: Andrew Mark
authors.initials: AM
authors.lastname: Allmendinger
authors.affiliation: Department of Neuroradiology, Brigham and Women's Hospital, Boston, USA.
authors.forename: Naman S
authors.initials: NS
authors.lastname: Desai
authors.affiliation: Department of Pediatrics, Franciscan Children's Hospital, Brighton, USA.
authors.forename: Alanna Teatom
authors.initials: AT
authors.lastname: Burke
authors.affiliation: Department of Neuroradiology, Brigham and Women's Hospital, Boston, USA.
authors.forename: Narayan
authors.initials: N
authors.lastname: Viswanadhan
authors.affiliation: Department of Neuroradiology, Boston Children's Hospital, Boston, USA.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Prabhu
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging; D005183:Failure to Thrive / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging / Q000379:methods*; D009460:Neurologic Examination / Q000379:methods; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D014463:Ultrasonography
keywords: Lowe Syndrome; MRI; oculocerebrorenal syndrome; renal nephrocalcinosis; ultrasound