title: Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.
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.
authors: Department of Pediatric Neurology, Hospital Sant Joan de Déu, Paseo de Sant Joan de Déu, 2 Esplugues de Llobregat, 08950 Barcelona, Spain. mserrano@hsjdbcn.org
authors: Mercedes
authors: M
authors: Serrano
authors: Isabel
authors: I
authors: Lizarraga
authors: Jochen
authors: J
authors: Reiss
authors: Anna Paula
authors: AP
authors: Dias
authors: Belén
authors: B
authors: Pérez-Dueñas
authors: Maria Antonia
authors: MA
authors: Vilaseca
authors: Rafael
authors: R
authors: Artuch
authors: Jaume
authors: J
authors: Campistol
authors: Angels
authors: A
authors: García-Cazorla
mesh_terms: D001284:Atrophy / Q000175:diagnosis; D001927:Brain Diseases / Q000175:diagnosis*; D002114:Calcinosis / Q000175:diagnosis*; D003067:Coenzymes / Q000172:deficiency*; D004453:Echoencephalography / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D011621:Pteridines; D013577:Syndrome
chemical_list: D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin
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