Abstract
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.
Similar content being viewed by others
References
Johnson JL, Duran M (2001) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS et al (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3163–3177
Appignani BA, Kaye EM, Wolpert SM (1996) CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. AJNR 17:317–320
Dublin AB, Hald JK, Wootton-Gorges SL (2002) Isolated sulfite oxidase deficiency: MR imaging features. AJNR 23:484–485
Rupar CA, Gillett J, Gordon BA et al (1996) Isolated sulfite oxidase deficiency. Neuropediatrics 27:299–304
Schuierer G, Kurlemann G, Bick U et al (1995) Molybdenum-cofactor deficiency: CT and MR findings. Neuropediatrics 26:51–54
Slot HM, Overweg-Plandsoen WC, Bakker HD et al (1993) Molybdenum cofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics 24:139–142
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Serrano, M., Lizarraga, I., Reiss, J. et al. Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. Pediatr Radiol 37, 1043–1046 (2007). https://doi.org/10.1007/s00247-007-0558-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00247-007-0558-2