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.
