Congenital intrahepatic portosystemic shunt diagnosed during intrauterine life

Abstract

Objective:To report a patient with prenatal diagnosis of portosystemic shunt; a rare condition in humans.Case description:17-Day-old female infant admitted for investigation of suspected diagnosis of portosystemic shunt, presumed in obstetric ultrasound. The hypothesis was confirmed after abdominal angiography and liver Doppler. Other tests such as echocardiography and electroencephalogram were performed to investigate possible co-morbidities or associated complications, and were normal. We chose conservative shunt treatment, as there were no disease-related complications and this was intrahepatic shunt, which could close spontaneously by the age of 2 years.Comments:Portosystemic shunt can lead to various complications such as hepatic encephalopathy, hypergalactosemia, liver tumors, and hepatopulmonary syndrome. Most diagnoses are done after one month of age, after such complications occur. The prenatal diagnosis of this patient provided greater security for the clinical picture management, as well as regular monitoring, which allows the anticipation of possible complications and perform interventional procedures when needed.

Efficacy and Safety of Transcatheter Embolization for Hepatic Encephalopathy Caused by Spontaneous Portosystemic Shunts

“…In humans, although both intrahepatic and extrahepatic congenital shunts have been observed, a congenital portosystemic shunt, which accounts for HE, is very rare [10,11]. In contrast, an acquired large portosystemic shunt is observed occasionally in patients who exhibit portal hypertension.…”

Congenital intra‐hepatic porto‐systemic shunts diagnosed during intrauterine life: Systematic review

“…Congenital porto‐systemic venous shunts (CPSSs) are a vascular malformation, in which blood from the gastrointestinal circulation partially or completely bypasses the hepatic circulation and drains directly into a systemic vessel, most commonly the inferior vena cava 1,2 …”

“…In 1995, Laverdière et al 6 reported the first case of anomalous fetal abdominal venous drainage. Currently, it is estimated that only 10% of cases are diagnosed during intrauterine life; however, most of these diagnoses are made during the investigation of other complications or associated anomalies 2,5 . Still, classifying the types of CPSSs into intra‐ and extra‐hepatic CPSS remains difficult, with no universal consensus 2,7 …”

Hallazgos por imagen de malformación de Abernethy tipo II en paciente de 12 años

“…El proceso tan complicado del desarrollo de la vena cava y su estrecha relación con el desarrollo del saco vitelino pueden explicar el origen de esta rara anomalía congénita y explicaría la alta incidencia de drenajes venosos en la VCI suprarrenal (3) . La incidencia de esta afección se estima en uno de cada 30,000 nacimientos y se asocia con otras malformaciones como la gastrointestinal, genitourinaria, ósea y cardiovascular (4) . En el 2018 se registró en la literatura mundial 39 casos de Abernethy tipo I y 22 casos de Abernethy tipo II (5) .…”