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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 23:334-336, February 2002
© 2002 American Society of Neuroradiology

Case Report
PEDIATRICS

CT Findings in the Infantile Form of Citrullinemia

Sait Albayram^a, Kieran J. Murphy^a, Philippe Gailloud^a, Abhay Moghekar^b and James A. Brunberg^c

^a Division of Neuroradiology, Department of Radiology and Radiological Sciences, The Johns Hopkins Hospital, Baltimore, MD 21287
^b Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD 21287
^c Department of Radiology, University of California, Davis

Address reprint requests to Kieran J. Murphy, MD, Interventional Neuroradiology, Department of Radiology and Radiological Sciences, The Johns Hopkins Hospital, Baltimore, MD 21287

Summary: Citrullinemia is a rare autosomal recessive inborn error of the urea cycle due to a deficiency in argininosuccinic acid synthetase. We present two cases of the infantile form of citrullinemia in which CT revealed bilateral and symmetric corticosubcortical hypoattenuating areas, ulegyric changes, and atrophy in the frontal lobes, as well as atrophy in the gyrus cinguli, insulae, and temporal lobes.

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