title: Two cases of citrullinaemia presenting with stroke.
abstract: Urea cycle disorders are known to be unusual causes of stroke. We report two infant cases of citrullinaemia that both initially presented with a stroke and suggest that urea cycle disorders should be included in the differential diagnosis of unexplained stroke during infancy and childhood.
authors.affiliation: Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: J H
authors.initials: JH
authors.lastname: Choi
authors.forename: H
authors.initials: H
authors.lastname: Kim
authors.forename: H W
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D001124:Argininosuccinate Synthase / Q000235:genetics; D001921:Brain / Q000473:pathology; D020159:Citrullinemia / Q000150:complications* / Q000175:diagnosis*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D012640:Seizures; D020521:Stroke / Q000150:complications*
chemical_list: D001124:Argininosuccinate Synthase