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Presentation of Congenital Portosystemic Shunts in Children

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Pediatric Specialties Division, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
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Pediatric Endocrinology, Cantonal Hospital Aarau, 5001 Aarau, Switzerland
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Pediatric Liver Unit, Necker Hospital, APHP, Paris Centre University, 75015 Paris, France
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Pediatric Radiology, Paris-Saclay University, Hôpital Bicêtre, Hôpitaux Paris-Saclay APHP, 94270 Paris, France
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Pulmonary Hypertension Program, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
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Pediatric Cardiology Unit, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
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Swiss Pediatric Liver Center, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
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Child and Adolescent Surgery Division, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
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Pediatric Gastroenterology, Hepatology and Nutrition Unit, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
*
Author to whom correspondence should be addressed.
Collaborators of the IRCPSS (International Registry of Congenital Porto-Systemic Shunts, www.ircpss.com) are indicated in the Acknowledgment section.
Academic Editors: Samriddha Ray and Massimo A. Padalino
Children 2022, 9(2), 243; https://doi.org/10.3390/children9020243
Received: 21 November 2021 / Revised: 31 December 2021 / Accepted: 25 January 2022 / Published: 11 February 2022
(This article belongs to the Special Issue Pediatric Vascular Anomalies: Clinical Diagnosis and Treatment)
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. View Full-Text
Keywords: congenital portosystemic shunt; Abernethy malformation; tall stature; liver nodules; hepatopulmonary syndrome; pulmonary arterial hypertension congenital portosystemic shunt; Abernethy malformation; tall stature; liver nodules; hepatopulmonary syndrome; pulmonary arterial hypertension
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MDPI and ACS Style

Bahadori, A.; Kuhlmann, B.; Debray, D.; Franchi-Abella, S.; Wacker, J.; Beghetti, M.; Wildhaber, B.E.; McLin, V.A.; on behalf of the IRCPSS. Presentation of Congenital Portosystemic Shunts in Children. Children 2022, 9, 243. https://doi.org/10.3390/children9020243

AMA Style

Bahadori A, Kuhlmann B, Debray D, Franchi-Abella S, Wacker J, Beghetti M, Wildhaber BE, McLin VA, on behalf of the IRCPSS. Presentation of Congenital Portosystemic Shunts in Children. Children. 2022; 9(2):243. https://doi.org/10.3390/children9020243

Chicago/Turabian Style

Bahadori, Atessa, Beatrice Kuhlmann, Dominique Debray, Stephanie Franchi-Abella, Julie Wacker, Maurice Beghetti, Barbara E. Wildhaber, Valérie A. McLin, and on behalf of the IRCPSS. 2022. "Presentation of Congenital Portosystemic Shunts in Children" Children 9, no. 2: 243. https://doi.org/10.3390/children9020243

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