Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Ethylmalonic encephalopathy is a fatal, rapidly progressive mitochondrial disorder caused by ETHE1 mutations, whose peculiar clinical and biochemical features are due to the toxic accumulation of hydrogen sulphide and of its metabolites, including thiosulphate. In mice with ethylmalonic encephalopathy, liver-targeted adeno-associated virus-mediated ETHE1 gene transfer dramatically improved both clinical course and metabolic abnormalities. Reasoning that the same achievement could be accomplished by liver transplantation, we performed living donor-liver transplantation in an infant with ethylmalonic encephalopathy. Unlike the invariably progressive deterioration of the disease, 8 months after liver transplantation, we observed striking neurological improvement with remarkable achievements in psychomotor development, along with dramatic reversion of biochemical abnormalities. These results clearly indicate that liver transplantation is a viable therapeutic option for ETHE1 disease.

Laparoscopic liver resection for hepatocellular carcinoma in Fontan-associated chronic liver disease. The first case report.

INTRODUCTION: A well-recognized long-term complication after Fontan procedure (FP), a complex cardiac surgery performed in patients with univentricular hearts, is the development of chronic liver disease and hepatocellular carcinoma (HCC). Due to the risk of cardiac and liver decompensation, liver resection of HCC is challenging and the laparoscopic approach has never been reported. PRESENTATION OF THE CASE: We present the first case of laparoscopic liver resection (LLR) of HCC in a 33-years-old girl with cardiac-related cirrhosis after FP. Intraoperatively, the pneumoperitoneum was established at 8-10 mmHg and adequate fluid infusion was given to maintain the cardiac preload. After an ultrasound-guided thermoablation along the free-tumor margin of the hepatic lesion, a full laparoscopic non-anatomical resection of the tumor in segment V was performed, without Pringle manouver and blood transfusion requirement. The cardiac function remained stable during the surgery and thereafter, and the post-operative course was uneventful. DISCUSSION: HCC in chronic liver disease after FP is associated with high-risk mortality. Due to the complex hemodynamic changes after FP, open surgical resections often aren't feasible and loco-regional percutaneous treatment or combined liver-heart transplantation are the only therapeutic options. This case suggests that LLR in FP patients has low-risk of liver and cardiac decompensation, minimizing the pneumoperitoneum insufflation to ensure low intra-abdominal/intra-thoracic pressures and providing accurate anaesthetic management to maintain proper cardiac preload and output. CONCLUSION: LLR for HCC after FP is safe and feasible, and might be considered an alternative treatment of HCC for which the best treatment has not been defined yet.

Same Donor Laparoscopic Liver and Kidney Procurement for Sequential Living Donor Liver-Kidney Transplantation in Primary Hyperoxaluria Type I.

Background: Sequential liver-kidney transplantation (SeqLKT) from the same living donor has shown excellent results in children with primary hyperoxaluria type 1 (PH1), yet its experience is limited due to the invasiveness of two major procedures for liver-kidney procurement in a single donor. Despite laparoscopic nephrectomy and hepatic left lateral sectionectomy (LLS) being considered standard procedures in living donation, the sequential use of the two laparoscopic approaches in the same living donor has never been reported. Methods: Herein, we present the first two case series of laparoscopic liver-kidney procurement in the same living donor for SeqLKT in children with PH1 and review of the current literature on this topic. Results: In the first case, a 15-month-old boy received a SeqLKT from his 32-year-old mother, who underwent a laparoscopic LLS and, after 8 months, a laparoscopic left nephrectomy. In the second case, a 34-month-old boy received a SeqLKT from his 40-year-old father who underwent laparoscopic LLS followed by hand-assisted right nephrectomy after 4 months. Both donors had uneventful postoperative courses and were discharged within 5 days from each surgery. The first recipient had no complication; the second child after liver transplantation developed a partial thrombosis of the inferior vena cava, which did not preclude the sequential kidney transplantation. After 12 months, donors and recipients displayed normal liver and renal functions. Conclusions: Sequential laparoscopic liver-kidney procurement in the same living donor is safe and feasible, and might be considered as a possible strategy to promote SeqLKT in children with PH1 from the same living donor.