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Two Cases of Citrullinemia Presented with Strokes

Journal of the Korean Pediatric Society 1999;42(3):437-441.
Published online March 15, 1999.
Two Cases of Citrullinemia Presented with Strokes
Hyun-Mi Kim1, Jae-Bok Kim1, Jung-Ho Kim1, Sang-Jin Ba2, Chong-Hyun Yoon2, Han-Wook 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
뇌졸중으로 발병한 Citrullinemia 2례
김현미1, 김재복1, 김정호1, 배상진2, 윤종현2, 유한욱1
1울산대학교 의과대학 소아과학교실
2울산대학교 의과대학 진단방사선과학교실
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.
Key Words: Stroke-like episode, Citrullinemia

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