A case of adult onset type II citrullinemia with portal-systemic shunt.

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.

• Authors: D Noto, K Takahashi, T Hamaguchi, K Inamura, K Nobata, M Yazaki, S Ikeda, K Kobayashi, M Yamada
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 281 Issue 1-2 Pg. 127-9 (Jun 15 2009) ISSN: 1878-5883 [Electronic] Netherlands
• PMID: 19285691 (Publication Type: Case Reports, Journal Article)

Topics

• Citrullinemia (diagnosis, pathology, therapy)
• Cognition Disorders (complications)
• Diagnosis, Differential
• Female
• Hepatic Encephalopathy (diagnosis)
• Humans
• Hyperammonemia (complications, therapy)
• Liver (pathology)
• Liver Transplantation
• Mesenteric Veins (abnormalities, surgery)
• Middle Aged
• Tomography, X-Ray Computed
• Vascular Malformations (pathology, surgery)
• Vena Cava, Inferior (abnormalities, surgery)