Affiliations: Department of Radiology, Children’s National Medical Center, NW, Washington, DC, USA | Department of Radiology, Nationwide Children’s Hospital, Columbus, OH, USA | Center for Molecular and Human Genetics, Nationwide Children’s Hospital Research Institute Columbus, Columbus, OH, USA | Department of Radiology, The Ohio State University College of Medicine and Public Health, Columbus, OH, USA | Departments of Pediatrics, The Ohio State University College of Medicine and Public Health, Columbus, OH, USA | Department of Radiology, School of Medicine, University of Toledo Medical College, Toledo, OH, USA
Note: [] Corresponding author: Usha D. Nagaraj, Pediatric Radiology Fellow, Children’s National Medical Center, Diagnostic Imaging and Radiology, 111 Michigan Ave., NW, Washington, DC 20010-2970, USA. Tel.: +1 202 476 4252; Fax: +1 202 476 3644; E-mail: [email protected].
Abstract: Citrullinemia is a rare inborn error of urea cycle metabolism causing hyperammonemia. In the classic form, a newborn presents with poor feeding, vomiting, progressive lethargy and signs of increasing intracranial pressure 3–7 d after birth, rapidly progressing to apnea, coma and death if untreated. We found only two reported cases in the literature describing magnetic resonance imaging findings of neonatal citrullinemia. We present a case of neonatal citrullinemia with more extensive and asymmetric magnetic resonance imaging abnormalities, including evidence of both superficial and deep venous cerebral infarction.