Two cases of citrullinaemia presenting with stroke.
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.
Choi
J H
JH
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Kim
H
H
Yoo
H W
HW
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*
D001124:Argininosuccinate Synthase