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Journal of Pediatric Neuroradiology 2013; 02(02): 169-173
DOI: 10.3233/PNR-13061
DOI: 10.3233/PNR-13061
Case Report
Magnetic resonance imaging in neonatal citrullinemia
Subject Editor:
Further Information
Publication History
28 June 2012
12 September 2012
Publication Date:
29 July 2015 (online)
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.