J Neurol Sci. 2003 May 15;209(1-2):101-4.

Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.

Au WL, Lim TC, Seow DC, Koh PL, Loh NK, Lim MS, Tan IK, Yee WC.

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Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng 308433, Singapore. wing_lok_au@ttsh.com.sg

Abstract

A 25-year-old Chinese man presented with a 2-year history of recurrent coma. His plasma ammonia level was extremely elevated, with raised citrulline level and absence of argininosuccinic acid. Adult-onset citrullinaemia, a condition rarely reported outside the Japanese population, was diagnosed. Serial magnetic resonance (MR) imaging, including diffusion-weighted (DW) studies, showed initial involvement of the insula cortex and cingulate gyrus, changing to a pattern of multiple small lesions in the depths of the cortical sulci. This changing pattern of lesions over time on DW MR imaging has not previously been described in adult-onset citrullinaemia.

PMID:: 12686410; [PubMed - indexed for MEDLINE]

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Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.

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