title: Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantation.
abstract: We report a 51-year-old female patient with adult-onset type II citrullinemia (CTLN2) who had a history of pancreatoduodenectomy for duodenal somatostatinoma with metastases to regional lymph nodes at age 49 years, paying special attention to indications for liver transplantation. At age 50 years, she developed hepatic encephalopathy with elevation of plasma ammonia and citrulline levels. A diagnosis of CTLN2 was made by DNA analysis of the SLC25A13 gene and treatment with conservative therapies was begun, including a low-carbohydrate diet and supplementation with arginine and sodium pyruvate. However, despite these treatments, frequent attacks of encephalopathy occurred with markedly elevated plasma ammonia levels. While we were apprehensive regarding the risk of recurrence of somatostatinoma due to immunosuppressive therapy after liver transplantation, the patient was in a critical condition with CTLN2 and it was decided to perform living-donor liver transplantation using a graft obtained from her son. Her postoperative clinical course was uneventful and she has had an active life without recurrence of somatostatinoma for 2 years. This is the first case of CTLN2 with somatostatinoma. As the condition of CTLN2 patients with rapidly progressive courses is often intractable by conservative therapies alone, liver transplantation should be considered even after surgery for malignant tumors in cases with neither metastasis nor recurrence.
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto.
authors.forename: Ko-Ichi
authors.initials: K
authors.lastname: Tazawa
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ogata
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Makuuchi
authors.forename: Katsuo
authors.initials: K
authors.lastname: Morita
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Hiraishi
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Iwasaki
authors.forename: Junji
authors.initials: J
authors.lastname: Kita
authors.forename: Keiichi
authors.initials: K
authors.lastname: Kubota
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ikeda