Pre-natal MRI monitoring allows for more timely initiation of life-saving treatment

Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures and early death in most cases. In 2008, life-saving experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has been pioneered in Monash Newborn and more recently, Monash researchers and others reported the outcome of the first 11 children treated in The Lancet. Of note, a markedly improved long-term developmental outcome could be achieved if treatment is initiated before the development of significant encephalopathy.
This paper reports data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. In MoCD-A, the first signs of brain injury on neuroimaging might already occur during the last weeks of pregnancy, suggesting limitation of the proposed maternal protection through the placental clearance of neuro-toxic metabolites in the last trimester.