Liver transplantation for a patient with Turner syndrome presenting severe portal hypertension: a case report and literature review

BACKGROUND: Liver involvement in Turner syndrome (TS) patients has been more clearly clarified in recent years. Most of the clinical manifestations in TS are asymptomatic and can be detected as liver test abnormalities; however, a few cases may present with end-stage liver disease and thus require liver transplantation (LT). To the best of our knowledge, only three cases undergoing LT for liver involvements in TS have been previously reported. CASE PRESENTATION: A 30-year-old female successfully underwent living donor LT for liver dysfunction related to TS syndrome. The diagnosis of TS was established by a cytogenetic analysis at 16 years of age. She received several sessions of endoscopic therapy for recurrent esophageal varices, which was complicated by ascites and spontaneous bacterial peritonitis since 27 years of age. Radiological findings of her liver before LT chronologically showed the progression of atrophy with disturbance of the major portal inflow. And then, she was finally indicated for LT. Pathologic findings of the explanted liver showed vascular abnormalities, obliterative portal venopathy, which may have induced liver dysfunction with severe portal hypertension. The patient’s postoperative course was uneventful. CONCLUSIONS: The clinicopathologic information obtained by the current case can provide an insight into understanding pathophysiological mechanisms of liver involvement in TS patients. TS patients presenting with severe liver atrophy and disturbance of the major portal inflow should be indicated for LT.