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Journal of Pediatric Neuroradiology 2013; 02(02): 169-173
DOI: 10.3233/PNR-13061
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Magnetic resonance imaging in neonatal citrullinemia

Authors

  • Usha D. Nagaraj

    a   Department of Radiology, Children’s National Medical Center, NW, Washington, DC, USA

  • Jerome A. Rusin

    b   Department of Radiology, Nationwide Children’s Hospital, Columbus, OH, USA
    d   Department of Radiology, The Ohio State University College of Medicine and Public Health, Columbus, OH, USA
    f   Department of Radiology, School of Medicine, University of Toledo Medical College, Toledo, OH, USA

  • Kim L. McBride

    c   Center for Molecular and Human Genetics, Nationwide Children’s Hospital Research Institute Columbus, Columbus, OH, USA
    e   Departments of Pediatrics, The Ohio State University College of Medicine and Public Health, Columbus, OH, USA

  • Carly M. Dent

    b   Department of Radiology, Nationwide Children’s Hospital, Columbus, OH, USA

  • Lynne Ruess

    b   Department of Radiology, Nationwide Children’s Hospital, Columbus, OH, USA
    d   Department of Radiology, The Ohio State University College of Medicine and Public Health, Columbus, OH, USA
    f   Department of Radiology, School of Medicine, University of Toledo Medical College, Toledo, OH, USA

Subject Editor:
Further Information

Publication History

28 June 2012

12 September 2012

Publication Date:
29 July 2015 (online)

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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.

Keywords

Citrullinemia - MRI - urea cycle - neonatal