Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.
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.
Au
Wing Lok
WL
Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng 308433, Singapore. wing_lok_au@ttsh.com.sg
Lim
Tchoyoson C C
TC
Seow
Dennis C C
DC
Koh
Pei Lin
PL
Loh
Ngai Kun
NK
Lim
Maria S F
MS
Tan
It Koon
IK
Yee
Woon Chee
WC
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
D001125:Argininosuccinic Acid; D002956:Citrulline; D000641:Ammonia