CT and MR appearance of the brain in two children with molybdenum cofactor deficiency.
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.
Appignani
B A
BA
Department of Neuroradiology, Tufts New England Medical Center, Boston, Massachusetts, USA.
Kaye
E M
EM
Wolpert
S M
SM
D001284:Atrophy; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D003067:Coenzymes; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008667:Metalloproteins / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011621:Pteridines / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin