Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

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• 作者：Mercedes Serrano ; Isabel Lizarraga ; Jochen Reiss ; Anna Paula Dias ; Bel¨¦n P¨¦rez-Due?as ; Maria Antonia Vilaseca ; Rafael Artuch ; Jaume Campistol and Angels Garc¨ªa-Cazorla
• 关键词：Molybdenum cofactor ; Cranial US ; MRI ; Infant
• 刊名：Pediatric Radiology
• 出版年：2007
• 出版时间：October, 2007
• 年：2007
• 卷：37
• 期：10
• 页码：1043-1046
• 全文大小：192 KB

文摘

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.