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.
Highlights
IntroductionCongenital shunts(CPSS)(CPSS)are arerare rareanatomic anatomic vascular anomalies reCongenital portosystemic portosystemic shunts vascular anomalies resultsulting in communications between the portal venous system andsystemic the systemic venous ing in communications between the portal venous system and the venous circucirculation, affecting an estimated to 50,000 live births [1,2]. areThey are accepted lation, affecting an estimated30,00030,000 to 50,000 live births [1,2]
Liver nodule histology was remarkable for regenerative nodular hyperplasia a hepatocellular lesion with both focal nodular hyperplasia (FNH)-like characteristics and beta-catenin nuclea pression
While intrauterine growth restriction is a common feature of patients with Congenital portosystemic shunts (CPSS) [1,29,62,63,64,65] and syndromic patients with CPSS may present with short stature [65], tall stature has been described by centers following patients with CPSS [3]
Summary
(CPSS)are arerare rareanatomic anatomic vascular anomalies reCongenital portosystemic portosystemic shunts vascular anomalies resultsulting in communications between the portal venous system andsystemic the systemic venous ing in communications between the portal venous system and the venous circucirculation, affecting an estimated to 50,000 live births [1,2]. are. 30,00030,000 to 50,000 live births [1,2] They accepted to arise to arise from incomplete remodeling the embryonic fetaland hepatic from incomplete vascularvascular remodeling betweenbetween the embryonic and fetaland hepatic periand perihepatic circulations in the first to weeks of gestation [3]. Persistent patent ductus venosus (PDV), conconsidered as an IH shunt, is unlikely to close spontaneously after 1–3 months of age, and sidered as an IH shunt, is unlikely to close spontaneously after 1–3 months of age, and is often included in the category of EH CPSS [3]. Genital portosystemic shunts: Vascular liver diseases: Position papers from the francophone netCongenital portosystemic shunts:the Both types of CPSS can go unnoticed for a long time, and present at any age masquerading as one of several conditions, highlighting the multiple functions of the liver. We will focus on clinical presentation and initial diagnosis, with a brief overview of management for the general pediatrician, in order to increase awareness in the pediatric community and decrease diagnostic delay
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