CT findings in the infantile form of citrullinemia.
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.
Albayram
Sait
S
Division of Neuroradiology, Department of Radiology and Radiological Sciences, The Johns Hopkins Hospital, Baltimore, MD 21287, USA.
Murphy
Kieran J
KJ
Gailloud
Philippe
P
Moghekar
Abhay
A
Brunberg
James A
JA
D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D020159:Citrullinemia / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed