Abstract:Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism which presents with neonatal encephalopathy, seizures, and a turbulent postnatal course. It is an under-recognized cause of neonatal encephalopathy as it mimics hypoxic ischemic encephalopathy (HIE) on imaging. We present the case of an affected male neonate of a twin pregnancy whose magnetic resonance imaging in the early neonatal period showed restricted diffusion in lobar distribution with areas of cystic gliosis and mild tortuosity of t… Show more
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