Presentation of Congenital Portosystemic Shunts in Children

Abstract

Background: Congenital portosystemic shunts (CPSS) are rare vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation, affecting an estimated 30,000 to 50,000 live births. CPSS can present at any age as a multi-system disease of variable severity mimicking both common and rare pediatric conditions. Case presentations: Case A: A vascular malformation was identified in the liver of a 10-year-old girl with tall stature, advanced somatic maturation, insulin resistance with hyperinsulinemia, hyperandrogenemia and transient hematuria. Work-up also suggested elevated pulmonary pressures. Case B: A young girl with trisomy 8 mosaicism with a history of neonatal hypoglycemia, transient neonatal cholestasis and tall stature presented newly increased aminotransferase levels at 6 years of age. Case C: A 3-year-old boy with speech delay, tall stature and abdominal pain underwent abdominal ultrasound (US) showing multiple liver nodules, diagnosed as liver hemangiomas by hepatic magnetic resonance imaging (MRI). Management and outcome: After identification of a venous malformation on liver Doppler US, all three patients were referred to a specialized liver center for further work-up within 12 to 18 months from diagnosis. Angio-computed tomography (CT) scan confirmed the presence of either an intrahepatic or extrahepatic CPSS with multiples liver nodules. All three had a hyperintense signal in the globus pallidus on T1 weighted cerebral MRI. Right heart catheterization confirmed pulmonary hypertension in cases A and C. Shunts were closed either using an endovascular or surgical approach. Liver nodules were either surgically removed if there was a risk of malignant degeneration or closely monitored by serial imaging when benign. Conclusion: These cases illustrate most of the common chief complaints and manifestations of CPSS. Liver Doppler US is the key to diagnosis. Considering portosystemic shunts in the diagnostic work-up of a patient with unexplained endocrine, liver, gastro-intestinal, cardiovascular, hematological, renal or neurocognitive disorder is important as prompt referral to a specialized center may significantly impact patient outcome.

Balloon-occluded retrograde transvenous obliteration for treatment of congenital intrahepatic portosystemic venous shunt: A case report

“…The cause of CPSVS remains unclear; however, it may arise from incomplete vascular remodeling between the fetal hepatic and perihepatic circulation during gestation. 6 , 7 The potential complications caused by long-term shunting can be serious, including hepatic encephalopathy (HE), hepatopulmonary syndrome, and portopulmonary hypertension. 4 …”

Liver Interventions in Children

“…114 119 Liver transplant is now reserved in cases of failure of closure, malignant nodules, severe pulmonary hypertension, or if life-threatening complications such as severe PH occur after closure. 108 117 121…”

“…114,119 Liver transplant is now reserved in cases of failure of closure, malignant nodules, severe pulmonary hypertension, or if life-threatening complications such as severe PH occur after closure. 108,117,121 Persistent intrahepatic portosystemic shunts and PDV are often treated by intravascular embolization (►Fig. 17).…”

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

“…False-positive neonatal screening for galactosemia may also be due to cases of congenital portosystemic shunts (CPSS), rare vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation [ 38 ]. In fact, hypergalactosemia may occur in 13–30% of CPSS cases and is thought to derive from ingested milk and the absence of a first hepatic passage, despite the normal activity of the GALT enzyme [ 23 , 38 ].…”

“…On the other hand, false-negative results can be obtained in case samples are not stored/collected correctly (i.e., enzyme activity assay can be subject to alteration following exposure to high temperatures and humidity) [ 37 , 38 , 39 , 40 , 41 , 42 , 43 ]. This observation is not restricted to galactosemia screening but concerns all the screening based on the evaluation of the enzymatic activity as the first test, i.e., biotinidase deficiency.…”