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Case Reports
. 2002 Feb;23(2):334-6.

CT findings in the infantile form of citrullinemia

Sait Albayram  1 , Kieran J Murphy, Philippe Gailloud, Abhay Moghekar, James A Brunberg
Affiliations
Case Reports

CT findings in the infantile form of citrullinemia

Sait Albayram et al. AJNR Am J Neuroradiol. 2002 Feb.

Abstract

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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Figures

F<sc>ig</sc> 1.
Fig 1.
Nonenhanced axial CT scan obtained in patient 1 demonstrates severe symmetric and bilateral ulegyric changes as well as multiple corticosubcortical hypoattenuating areas (arrows), with apparent sparing of the sulci apices in both frontal lobes. Note that the bilateral frontal lobes, gyri cinguli, and insulae are atrophic.
F<sc>ig</sc> 2.
Fig 2.
Images obtained in patient 2. A, Contrast-enhanced axial CT scan shows bilateral and symmetric hypoattenuating areas located in the depth of the sulci in both frontal lobes (arrows), with sparing of the cortical apices. B, Contrast-enhanced axial CT scan shows prominent cingulate gyri atrophy and ulegyric changes in the frontal lobes. C, Nonenhanced axial CT scans shows bilateral hypoattenuating areas in the claustrum (arrows) and atrophy of the frontal and temporal lobes.
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