Two Cases of Citrullinemia Presented with Strokes.
- Author:
Hyun Mi KIM
1
;
Jae Bok KIM
;
Jung Ho KIM
;
Sang Jin BAE
;
Chong Hyun YOON
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Stroke-like episode;
Citrullinemia
- MeSH:
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
- From:Journal of the Korean Pediatric Society
1999;42(3):437-441
- CountryRepublic of Korea
- Language:Korean
-
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.
