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

J Neurol Sci. 2003 May 15;209(1-2):101-4. doi: 10.1016/s0022-510x(02)00439-2.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ammonia / blood
  • Argininosuccinic Acid / blood
  • Brain / pathology
  • Citrulline / blood
  • Citrullinemia / blood
  • Citrullinemia / complications
  • Citrullinemia / diagnosis*
  • Citrullinemia / diet therapy
  • Coma / etiology
  • Diagnosis, Differential
  • Disease Progression
  • Fatty Liver / diagnostic imaging
  • Fatty Liver / etiology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Recurrence
  • Remission, Spontaneous
  • Substance-Related Disorders / diagnosis
  • Ultrasonography

Substances

  • Argininosuccinic Acid
  • Citrulline
  • Ammonia