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DOI: 10.4103/1947-489X.210984
Molybdenum cofactor deficiency: Report of a new case and literature review
Authors
We report a case of genetically confirmed molybdenum cofactor deficiency in an infant presenting with difficult to control neonatal seizures, and a severe cystic leukoencephalopathy on brain magnetic resonance imaging (MRI). This is a rare disease entity that can be easily missed or confused with hypoxic ischemic encephalopathy. Raising awareness regarding this condition has significant implications regarding genetic counseling, prognostication, and possibly medicolegal liability. We report a case confirmed by genetic testing that revealed a mutation previously unreported to the best of our knowledge. We discuss the clinical presentation, imaging findings, and review the literature on this under-recognized disease.
Publication History
Received: 17 December 2009
Accepted: 27 February 2010
Article published online:
23 May 2022
© 2010. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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