J Korean Pediatr Soc.
1999 Mar;42(3):437-441.
Two Cases of Citrullinemia Presented with Strokes
- Affiliations
-
- 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.
Keyword
MeSH Terms
-
Alkalosis, Respiratory
Astrocytes
Brain Edema
Central Nervous System
Child
Citrullinemia*
Diagnosis, Differential
Glutamine
Heart Diseases
Humans
Hyperammonemia
Metabolism
Migraine Disorders
Mitochondrial Diseases
Ornithine Carbamoyltransferase Deficiency Disease
Pathology
Stroke*
Urea
Urea Cycle Disorders, Inborn
Glutamine
Urea
