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Case Reports
. 2013 Jul;43(7):882-5.
doi: 10.1007/s00247-012-2579-8. Epub 2012 Dec 19.

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

Nicholas V Stence  1 , Curtis R Coughlin 2nd, Laura Z Fenton, Janet A Thomas
Affiliations
Case Reports

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

Nicholas V Stence et al. Pediatr Radiol. 2013 Jul.

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.

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