Early MR brain findings in a neonate with molybdenum cofactor deficiency

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 the intracranial vessels. There are only a few case reports to the best of our knowledge which describe magnetic resonance (MR) findings of MoCD on diffusion-weighted images, none of which mentions unilateral changes or vessel tortuosity. MoCD should be considered in children with MR findings mimicking HIE in the absence of a history of perinatal hypoxia. This is important as the disorder has a poorer prognosis and the parents need appropriate prenatal counseling.