Molybdenum cofactor deficiency: Report of a new case and literature review

Abstract

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.

Molybdenum cofactor deficiency: Neuroimaging findings

“…More than 90% of the cases present early, in the first few days of life with intractable seizures, hypertonia, and feeding difficulties. The mean age at diagnosis was 12.5 months [1] . The median survival is 36 months [4] .…”

“…Less than 150 cases have been reported worldwide [1] . Actual incidence might be greater than known because patients might have passed away without diagnosis [2] .…”

“…Molybdenum cofactor deficiency (MCD) is an extremely rare and fatal metabolic disorder that is characterized by severe and progressive neurologic deterioration in early infancy. Less than 150 cases have been reported in the literature [1] . MCD is an autosomal recessively inherited disorder and reveals findings within the first few days after birth.…”

A case of molybdenum cofactor deficiency

“…Sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase are the three enzymes dependent on a molybdenum-pterin complex named molybdenum cofactor 3 . Absence of the cofactor leads to a combined deficiency of these three enzymes.…”

“…MoCD leads to a combined deficiency of molybdenum cofactor dependent enzymes including xanthine dehydrogenase, sulphite oxidase, aldehyde oxidase and mitochondrial amidoxine reducing component 3 . Death at an early age is common and patients who survive, usually progress to severe psychomotor delay 2 .…”