A case of adult-onset type II citrullinemia (CTLN2) triggered by an overseas travel

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  • 海外旅行を契機に発症した成人発症II型シトルリン血症の1例
  • カイガイ リョコウ オ ケイキ ニ ハッショウ シタ セイジン ハッショウ Ⅱ カタ シトルリン ケツショウ ノ 1レイ

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Abstract

A 43-year-old male presented with abnormal behavior and consciousness disturbance on the day after traveling abroad and was admitted to our hospital. Laboratory tests showed hyperammonemia and hypercitrullinemia. The electro-encephalogram showed frontal dominant bilateral slow δ burst. He had a peculiar taste for nuts. But he didn’t take nuts during the overseas travel for 3 days. The family history revealed that his younger brother died of a status epilepticus of unknown cause at the age of 29. These findings were compatible with hepatic encephalopathy due to adult-onset type II citrullinemia (CTLN2). Gene analysis provided a definite diagnosis of CTLN2. Diet and drug therapy have improved his condition. He is due to have liver transplantation which is the only established radical treatment for CTLN2 if his condition becomes worse. The present case shows that cessation of the habitual intake of nuts only for 3 days could lead to onset of CTLN2.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 54 (9), 747-750, 2014

    Societas Neurologica Japonica

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