All issues > Volume 42(3); 1999

Case Report

J Korean Pediatr Soc. 1999;42(3):437-441. Published online March 15, 1999.

Two Cases of Citrullinemia Presented with Strokes

Hyun-Mi HM Kim¹, Jae-Bok JB Kim¹, Jung-Ho JH Kim¹, Sang-Jin SJ Ba², Chong-Hyun CH Yoon², Han-Wook HW Yoo¹

¹Department of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea
²Department of Diagnostic Radiology, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea

Abstract

Urea cycle disorders are characterized by encephalopathy, respiratory alkalosis, and hyperammonemia. A urea cycle disorder should be considered a diagnostic possibility in any patient regardless of age with occult encephalopathy. The most common central nervous system pathology of urea cycle disorder is cerebral edema. The cerebral edema is caused by astrocyte swelling secondary to hyperammonemia and intracellular glutamine accumulation. Strokes in children occur in conjunction with cardiac disease, hematologic disorders, mitochondrial encephalopathy, trauma, intracranial infections and migraines. Recently, several inborn errors in metabolism have been recognized as possible causes of stroke. To our knowledge, there have been several reports on ornithine transcarbamylase deficiency with stroke. However, the case of citrullinemia presenting with a stroke-like episode has not been described previously. We report two infantile cases of citrullinemia with initial presentation of stroke. The differential diagnosis of unexplained strokes should include inborn errors of urea cycle metabolism during childhood.

Keywords :Stroke-like episode, Citrullinemia