Congenital Portosystemic Shunts

Mclin, Valérie Anne; Abella, Stephanie Franchi; Debray, Dominique; Guérin, Florent; Beghetti, Maurice; Savale, Laurent; Wildhaber, Barbara E.; Gonzalès, Emmanuel

doi:10.1097/mpg.0000000000002263

Cited by 46 publications

(62 citation statements)

References 70 publications

(91 reference statements)

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“…We are in full agreement with the authors that there is an era effect in this report as we now know that most of the indications for liver transplantation in this series, such as hyperammonemia, hepatopulmonary syndrome, and nonmalignant nodules, can be corrected by endovascular or surgical closure. (2)(3)(4) The other notable feature of this report is the young age of patients at transplant with 19/26 patients having undergone transplantation before the age of 9 years, and 14/26 before the age of 5 years, of which 2 were for portopulmonary hypertension (POPH).…”

Section: To the Editormentioning

confidence: 93%

Current Quandaries in the Management of Congenital Portosystemic Shunts

et al. 2021

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Section: To the Editormentioning

confidence: 93%

Current Quandaries in the Management of Congenital Portosystemic Shunts

et al. 2021

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“…Portosystemic shunts can be diagnosed with ultrasound Doppler or computed tomography. These children would also have hypoglycemia with hyperinsulinemia, high blood galactose levels, hepatopulmonary syndrome[ 32 ].…”

Section: Ucdmentioning

confidence: 99%

Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects

Ravindranath¹,

Sarma²

2022

WJH

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Fatty acid oxidation defects (FAOD) and urea cycle defects (UCD) are among the most common metabolic liver diseases. Management of these disorders is dotted with challenges as the strategies differ based on the type and severity of the defect. In those with FAOD the cornerstone of management is avoiding hypoglycemia which in turn prevents the triggering of fatty acid oxidation. In this review, we discuss the role of carnitine supplementation, dietary interventions, newer therapies like triheptanoin, long-term treatment and approach to positive newborn screening. In UCD the general goal is to avoid excessive protein intake and indigenous protein breakdown. However, one size does not fit all and striking the right balance between avoiding hyperammonemia and preventing deficiencies of essential nutrients is a formidable task. Practical issues during the acute presentation including differential diagnosis of hyperammonemia, dietary dilemmas, the role of liver transplantation, management of the asymptomatic individual and monitoring are described in detail. A multi-disciplinary team consisting of hepatologists, metabolic specialists and dieticians is required for optimum management and improvement in quality of life for these patients.

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“…Congenital portosystemic shunts (CPSS) are rare anatomic 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 [ 1 , 2 ]. They are accepted to arise from incomplete vascular remodeling between the embryonic and fetal hepatic and perihepatic circulations in the first 4 to 6 weeks of gestation [ 3 ]. These vascular malformations are generally low-pressure systems that may vary in size and number and may exist inside or outside of the liver diverting portal blood flow with varying degrees to the systemic circulation [ 3 , 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Presentation of Congenital Portosystemic Shunts in Children

et al. 2022

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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.

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Congenital Portosystemic Shunts

Cited by 46 publications

References 70 publications

Current Quandaries in the Management of Congenital Portosystemic Shunts

Current Quandaries in the Management of Congenital Portosystemic Shunts

Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects

Presentation of Congenital Portosystemic Shunts in Children

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