title: Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.
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.
authors.affiliation: Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng 308433, Singapore. wing_lok_au@ttsh.com.sg
authors.forename: Wing Lok
authors.initials: WL
authors.lastname: Au
authors.forename: Tchoyoson C C
authors.initials: TC
authors.lastname: Lim
authors.forename: Dennis C C
authors.initials: DC
authors.lastname: Seow
authors.forename: Pei Lin
authors.initials: PL
authors.lastname: Koh
authors.forename: Ngai Kun
authors.initials: NK
authors.lastname: Loh
authors.forename: Maria S F
authors.initials: MS
authors.lastname: Lim
authors.forename: It Koon
authors.initials: IK
authors.lastname: Tan
authors.forename: Woon Chee
authors.initials: WC
authors.lastname: Yee
mesh_terms: D000328:Adult; D000641:Ammonia / Q000097:blood; D001125:Argininosuccinic Acid / Q000097:blood; D001921:Brain / Q000473:pathology; D002956:Citrulline / Q000097:blood; D020159:Citrullinemia / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy; D003128:Coma / Q000209:etiology; D003937:Diagnosis, Differential; D018450:Disease Progression; D005234:Fatty Liver / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012008:Recurrence; D012075:Remission, Spontaneous; D019966:Substance-Related Disorders / Q000175:diagnosis; D014463:Ultrasonography
chemical_list: D001125:Argininosuccinic Acid; D002956:Citrulline; D000641:Ammonia