Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

Andrew Mark Allmendinger, Naman S. Desai, Alanna Teatom Burke, Narayan Viswanadhan, Sanjay Prabhu

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalJournal of Radiology Case Reports
Volume8
Issue number10
DOIs
StatePublished - Jan 1 2014

Keywords

  • Lowe Syndrome
  • MRI
  • Oculocerebrorenal syndrome
  • Renal nephrocalcinosis
  • Ultrasound

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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