CT findings in the infantile form of citrullinemia.

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.

• Authors: Sait Albayram, Kieran J Murphy, Philippe Gailloud, Abhay Moghekar, James A Brunberg
• Journal: AJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) Vol. 23 Issue 2 Pg. 334-6 (Feb 2002) ISSN: 0195-6108 [Print] United States
• PMID: 11847065 (Publication Type: Case Reports, Journal Article)

Topics

• Atrophy
• Brain (diagnostic imaging)
• Child
• Citrullinemia (diagnostic imaging)
• Humans
• Male
• Tomography, X-Ray Computed