Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature

Francesca Romana Ponziani, Mariella Faccia, Maria Assunta Zocco, Valerio Giannelli, Adriano Pellicelli, Giuseppe Maria Ettorre, Nicoletta De Matthaeis, Fabrizio Pizzolante, Anna Maria De Gaetano, Laura Riccardi, Maurizio Pompili, Gian Ludovico Rapaccini

Research output: Contribution to journalReview article

Abstract

Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, is a rare condition in which the splenomesenteric blood drains directly into a systemic vein, bypassing the liver through a complete or partial shunt. The diagnosis is frequently made during childhood in the setting of neonatal cholestasis, hypergalactosemia, failure to thrive, mental retardation or other congenital defects. In adulthood, CEPS is usually found incidentally during diagnostic work-up for abdominal pain, liver test abnormalities, liver nodules, portopulmonary hypertension, portopulmonary syndrome or portosystemic encephalopathy. The diagnosis depends on imaging and portal venography, but sometimes only liver biopsy can be resolutive, demonstrating the absence of venules within the portal areas. Here we report four recent cases of Abernethy malformation diagnosed in young adults, in which ultrasound (US) was the initial imaging technique and allowed to suspect the diagnosis. Furthermore, we reviewed clinical presentations, associated anomalies and treatment of the 310 cases of CEPS previously reported in the literature.

Original languageEnglish
JournalJournal of Ultrasound
DOIs
Publication statusE-pub ahead of print - Oct 24 2018

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Surgical Portasystemic Shunt
Liver
Failure to Thrive
Hepatic Encephalopathy
Venules
Phlebography
Cholestasis
Intellectual Disability
Abdominal Pain
Young Adult
Veins
Hypertension
Biopsy

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Congenital extrahepatic portosystemic shunt : description of four cases and review of the literature. / Ponziani, Francesca Romana; Faccia, Mariella; Zocco, Maria Assunta; Giannelli, Valerio; Pellicelli, Adriano; Ettorre, Giuseppe Maria; De Matthaeis, Nicoletta; Pizzolante, Fabrizio; De Gaetano, Anna Maria; Riccardi, Laura; Pompili, Maurizio; Rapaccini, Gian Ludovico.

In: Journal of Ultrasound, 24.10.2018.

Research output: Contribution to journalReview article

Ponziani, FR, Faccia, M, Zocco, MA, Giannelli, V, Pellicelli, A, Ettorre, GM, De Matthaeis, N, Pizzolante, F, De Gaetano, AM, Riccardi, L, Pompili, M & Rapaccini, GL 2018, 'Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature', Journal of Ultrasound. https://doi.org/10.1007/s40477-018-0329-y
Ponziani, Francesca Romana ; Faccia, Mariella ; Zocco, Maria Assunta ; Giannelli, Valerio ; Pellicelli, Adriano ; Ettorre, Giuseppe Maria ; De Matthaeis, Nicoletta ; Pizzolante, Fabrizio ; De Gaetano, Anna Maria ; Riccardi, Laura ; Pompili, Maurizio ; Rapaccini, Gian Ludovico. / Congenital extrahepatic portosystemic shunt : description of four cases and review of the literature. In: Journal of Ultrasound. 2018.
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abstract = "Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, is a rare condition in which the splenomesenteric blood drains directly into a systemic vein, bypassing the liver through a complete or partial shunt. The diagnosis is frequently made during childhood in the setting of neonatal cholestasis, hypergalactosemia, failure to thrive, mental retardation or other congenital defects. In adulthood, CEPS is usually found incidentally during diagnostic work-up for abdominal pain, liver test abnormalities, liver nodules, portopulmonary hypertension, portopulmonary syndrome or portosystemic encephalopathy. The diagnosis depends on imaging and portal venography, but sometimes only liver biopsy can be resolutive, demonstrating the absence of venules within the portal areas. Here we report four recent cases of Abernethy malformation diagnosed in young adults, in which ultrasound (US) was the initial imaging technique and allowed to suspect the diagnosis. Furthermore, we reviewed clinical presentations, associated anomalies and treatment of the 310 cases of CEPS previously reported in the literature.",
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AU - Ponziani, Francesca Romana

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AU - Giannelli, Valerio

AU - Pellicelli, Adriano

AU - Ettorre, Giuseppe Maria

AU - De Matthaeis, Nicoletta

AU - Pizzolante, Fabrizio

AU - De Gaetano, Anna Maria

AU - Riccardi, Laura

AU - Pompili, Maurizio

AU - Rapaccini, Gian Ludovico

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N2 - Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, is a rare condition in which the splenomesenteric blood drains directly into a systemic vein, bypassing the liver through a complete or partial shunt. The diagnosis is frequently made during childhood in the setting of neonatal cholestasis, hypergalactosemia, failure to thrive, mental retardation or other congenital defects. In adulthood, CEPS is usually found incidentally during diagnostic work-up for abdominal pain, liver test abnormalities, liver nodules, portopulmonary hypertension, portopulmonary syndrome or portosystemic encephalopathy. The diagnosis depends on imaging and portal venography, but sometimes only liver biopsy can be resolutive, demonstrating the absence of venules within the portal areas. Here we report four recent cases of Abernethy malformation diagnosed in young adults, in which ultrasound (US) was the initial imaging technique and allowed to suspect the diagnosis. Furthermore, we reviewed clinical presentations, associated anomalies and treatment of the 310 cases of CEPS previously reported in the literature.

AB - Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, is a rare condition in which the splenomesenteric blood drains directly into a systemic vein, bypassing the liver through a complete or partial shunt. The diagnosis is frequently made during childhood in the setting of neonatal cholestasis, hypergalactosemia, failure to thrive, mental retardation or other congenital defects. In adulthood, CEPS is usually found incidentally during diagnostic work-up for abdominal pain, liver test abnormalities, liver nodules, portopulmonary hypertension, portopulmonary syndrome or portosystemic encephalopathy. The diagnosis depends on imaging and portal venography, but sometimes only liver biopsy can be resolutive, demonstrating the absence of venules within the portal areas. Here we report four recent cases of Abernethy malformation diagnosed in young adults, in which ultrasound (US) was the initial imaging technique and allowed to suspect the diagnosis. Furthermore, we reviewed clinical presentations, associated anomalies and treatment of the 310 cases of CEPS previously reported in the literature.

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