Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

Authors

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

DOI:

https://doi.org/10.3941/jrcr.v8i10.1740

Keywords:

Lowe Syndrome, oculocerebrorenal syndrome, renal nephrocalcinosis, MRI, ultrasound

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.

Author Biographies

Andrew Mark Allmendinger

Harvard Medical School

Clinical Fellow

Department of Neuroradiology

Naman S. Desai

Resident in Diagnostic Radiology,

Brigham and Women's Hospital

Harvard Medical School

Alanna Teatom Burke

Department of Pediatrics

Attending Physician

Narayan Viswanadhan

Harvard Medical School

Clinical Fellow

Department of Neuroradiology

Sanjay P Prabhu

  • Harvard Medical School
  • Director, Radiology Advanced Image Analysis Lab
  • Staff Radiologist
  • Department of Neuroradiology
Journal of Radiology Case Reports October 2014 issue - Cover page: Duplicated Pelvic Floor Musculature and Diastematomyelia in a Cloacal Exstrophy Patient by Brian M Inouye et al.

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Published

2014-10-19

Issue

Vol. 8 No. 10 (2014)

Section

General Radiology

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