Endovascular Closure Resolves Trimethylaminuria Caused by Congenital Portosystemic Shunts / 대한소아소화기영양학회지

This study aimed to report three new cases of an association between two rare conditions, congenital portosystemic shunts (CPSS) and trimethylaminuria (TMAU), and the efficacy of endovascular closure of the CPSS for resolving TMAU. Between November 2014 and April 2017, 15 patients with CPSS were enrolled in this prospective study to assess the efficacy of percutaneous endovascular shunt closure. Three patients presented with clinical symptoms of TMAU that were confirmed by urine analysis of trimethylamine (TMA) and TMA n-oxide. One year after endovascular closure of the congenital portosystemic shunt, the same parameters were evaluated were obtained and the values were compared to the pretreatment values. The results indicated the disappearance of clinical symptoms of TMAU and normalization of the urine test parameters in two patients and no changes in one patient, who developed new portosystemic communications.

Neonatal congenital portosystemic shunt complicated with iliac artery-umbilical vein fistula: a case report and literature review / 中国新生儿科杂志

Objective To study the clinical characteristics and current treatment options of neonatal congenital portosystemic shunt (CPSS).Method A newborn infant diagnosed with CPSS complicated with iliac artery-umbilical vein fistula was studied.CNKI,VIP,WanFang and Pubmed databases were searched using CPSS and Abernethy malformation as keywords.A total of 8 papers on neonatal CPSS were retrieved from 2006 to 2016.Result The case treated in our hospital was a boy with symptom of dyspnea and cyanosis.His ultrasound cardiograph showed pulmonary hypertension,and the heart and abdominal CT scan showed portosystemic shunt,dilated portal vein and umbilical vein,patent ductus venosus (PDV) and iliac artery-umbilical vein fistula.A total of 25 patients were analyzed including our patient and 24 cases reported in 8 papers.Cases of intrahepatic shunt (n =22) were nore common than extrahepatic shunt (n =3),and most cases could be diagnosed with ultrasound.Congenital heart diseases,intrauterine growth retardation,cutaneous hemangioma were common complications of CPSS.Abnormal liver function (52.0％),hyperammonemia (28.0％),pulmonary arterial hypertension (12.0％),dyspnea (12.0％) were common clinical manifestations of neonatal CPSS.Most CPSS cases were treated non-operatively during neonatal periods,and in 40.0％ of cases the shunts were closed spontaneously,but mortality was 20.0％ among previous cases.Conclusion Abnormal hepatic function is the most common clinical symptom of neonatal CPSS.Cases of extrahepatic shunts and complicated with PDV are dangerous and operation should be done as soon as possible,meanwhile complications should be treated appropriately.