Pediatric Radiology

, Volume 43, Issue 7, pp 882–885

Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency

  • Nicholas V. Stence
  • Curtis R. CoughlinII
  • Laura Z. Fenton
  • Janet A. Thomas
Case Report

DOI: 10.1007/s00247-012-2579-8

Cite this article as:
Stence, N.V., Coughlin, C.R., Fenton, L.Z. et al. Pediatr Radiol (2013) 43: 882. doi:10.1007/s00247-012-2579-8

Abstract

We present a neonate with molybdenum cofactor deficiency imaged at presentation during the first month of life and at 5 months with diffusion-weighted brain MRI. While the imaging features of this disease have previously been reported, this case highlights a distinctive initial pattern of widespread restricted diffusion involving cortex at the depths of sulci. Other case series have published diffusion-weighted images (DWI) with this pattern but never specifically commented on this finding. This distinct DWI pattern also accounts for the configuration of ulegyria frequently described on later imaging. Early recognition of this unique initial DWI pattern could avoid misdiagnosis and better direct counseling and management.

Keywords

Molybdenum cofactor deficiency Diffusion-weighted imaging Cystic encephalomalacia Ulegyria 

Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Nicholas V. Stence
    • 1
  • Curtis R. CoughlinII
    • 2
  • Laura Z. Fenton
    • 1
  • Janet A. Thomas
    • 2
  1. 1.Department of Radiology, Children’s Hospital ColoradoUniversity of Colorado DenverAuroraUSA
  2. 2.Section of Clinical Genetics and Metabolism, Department of PediatricsUniversity of Colorado DenverAuroraUSA

Personalised recommendations