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A case of adult onset type II citrullinemia with portal-systemic shunt
D Noto1, K Takahashi, T Hamaguchi
1Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan. d-noto@med.kanazawa-u.ac.jp
Abstract:
A 48-year-old woman who had conscious disturbance and abnormal behaviors had been misdiagnosed as having hepatic encephalopathy due to hyperammonemia and portal-systemic shunt, and retrograde transvenous obliteration of the shunt did not improve her symptoms. Thereafter, analyses of plasma amino acids and citrin gene revealed a diagnosis of adult onset type II citrullinemia (CTLN2). She underwent auxiliary partial orthotopic liver transplantation (APOLT) using a left lobe graft from her brother, and her symptoms as well as hyperammonemia improved. Our case demonstrates the importance of CTLN2 as a differential diagnosis in patients with hyperammonemia and consciousness disturbance, even if they present with a portal-systemic shunt.
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