Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.
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.
Serrano
Mercedes
M
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
Lizarraga
Isabel
I
Reiss
Jochen
J
Dias
Anna Paula
AP
Pérez-Dueñas
Belén
B
Vilaseca
Maria Antonia
MA
Artuch
Rafael
R
Campistol
Jaume
J
García-Cazorla
Angels
A
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
D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin
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