molybdenum-cofactor and Atrophy

Molybdenum cofactor is essential for the function of three human enzymes: sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Molybdenum cofactor deficiency is a rare autosomal recessively inherited disease. Disturbed development and damage to the brain may occur as a result of accumulation of toxic levels of sulphite. The CT and MRI findings include severe early brain abnormalities and have been widely reported, but the cranial US imaging findings have seldom been reported. We report a chronological series of cranial US images obtained from an affected infant that show the rapid development of cerebral atrophy, calcifications and white matter cysts. Our report supports the utility of cranial US, a noninvasive bed-side technique, in the detection and follow-up of these rapidly changing lesions.

Topics: Atrophy; Brain Diseases; Calcinosis; Coenzymes; Echoencephalography; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors; Pteridines; Syndrome

Imaging findings in two children with molybdenum cofactor deficiency included, in one, diffuse low attenuation on CT in cerebral white matter, caudate nuclei, and thalami soon after birth. MR in both patients later demonstrated progressive widening of the sulci, ventricles, and cisterna magna, and loss of brain volume. MR finally showed cessation of myelination at 31 months and 16 weeks of age.

Topics: Atrophy; Brain; Brain Diseases, Metabolic; Coenzymes; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Metalloproteins; Molybdenum Cofactors; Nerve Fibers, Myelinated; Pteridines; Tomography, X-Ray Computed