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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

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
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Publikationsverlauf

28. Juni 2012

12. September 2012

Publikationsdatum:
29. Juli 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