Abernethy malformation type 2: varied presentation, management and outcome

Jain, Vishesh; Sangdup, Tsering; Agarwala, Sandeep; Bishoi, Akshay Kumar; Chauhan, Sandeep; Dhua, Anjan Kumar; Jana, Manisha; Kandasamy, Devasenathipathy; Malik, Rohan; Kothari, Shyam Sunder; Patcharu, Ravi; Varshney, A. C.; Bhatnagar, Veereshwar

doi:10.1016/j.jpedsurg.2018.08.053

Cited by 16 publications

(13 citation statements)

References 28 publications

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“…Stabilization and regression of the pulmonary, neurologic, cardiac and vascular complications can be expected after liver transplantation or shunt resolution[ 2 , 15 , 35 - 37 ]. Jain et al[ 9 ], for example reported marked improvement in clinical signs, symptoms and laboratory values in all five patients with extrahepatic CPSS type 2 who underwent shunt ligation and complete closure of the shunt stabilized or even reduced pulmonary arterial pressure in two of the patients from a case series by Kirsch et al[ 16 ]. Orthotopic liver transplantation has similarly good results, as reported by Xiang et al[ 36 ].…”

Section: Discussionmentioning

confidence: 99%

“…The clinical significance of CPSS mainly depends on the ratio of blood flow through the shunt[ 6 ]. The clinical picture of the shunt can range from an asymptomatic patient with incidentally detected elevated liver enzymes or changes detected on liver imaging[ 2 , 7 , 8 ], to a symptomatic patient with severe disease presenting with multiple organ involvement[ 7 - 9 ].…”

Section: Introductionmentioning

confidence: 99%

“…A liver biopsy is necessary to confirm or exclude the presence of venules in the portal triads, which is important for distinguishing between type 1 and type 2 extrahepatic CPSS and guiding treatment. Diagnostic testing for the presence of comorbidities or complications is performed based on the clinical picture[ 2 , 7 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Abernethy syndrome in Slovenian children: Five case reports and review of literature

Peček

Fister

Homan

2020

WJG

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BACKGROUND Abernethy syndrome is a congenital vascular anomaly in which the portal blood completely or partially bypasses the liver through a congenital portosystemic shunt. Although the number of recognized and reported cases is gradually increasing, Abernethy syndrome is still a rare disease entity, with an estimated prevalence between 1 per 30000 to 1 per 50000 cases. With this case series, we aimed to contribute to the growing knowledge of potential clinical presentations, course and complications of congenital portosystemic shunts (CPSS) in children. CASE SUMMARY Five children are presented in this case series: One female and four males, two with an intrahepatic CPSS and three with an extrahepatic CPSS. The first patient, who was diagnosed with an intrahepatic CPSS, presented with gastrointestinal bleeding, abdominal pain and hyperammonaemia at six years of age. He underwent a percutaneous embolization of his shunt and has remained asymptomatic ever since. The second patient presented with direct hyperbilirubinemia in the neonatal period and his intrahepatic CPSS later spontaneously regressed. The third patient had pulmonary hypertension and hyperammonaemia due to complete portal vein agenesis and underwent liver transplantation at five years of age. The fourth patient was diagnosed immediately after birth, when evaluated due to another congenital vascular anomaly, and the last patient presented as a teenager with recurrent bone fractures associated with severe osteoporosis. In addition, the last two patients are characterised by benign liver nodules; however, they are clinically stable on symptomatic therapy. CONCLUSION Abernethy syndrome is a rare anomaly with diverse clinical features, affecting almost all organ systems and presenting at any age.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Abernethy syndrome in Slovenian children: Five case reports and review of literature

Peček

Fister

Homan

2020

WJG

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“…However, it may develop into a neoplasm because of the absence of portal hepatotropic factors and the increased hepatic arterial flow secondary to portal ischemia. 16,17 It is, therefore, necessary to evaluate these nodule lesions carefully. In this case, the liver nodule was confirmed as focal nodule hyperplasia by biopsy.…”

Section: Discussionmentioning

confidence: 99%

Surgical Ligation for the Treatment of an Unusual Presentation of Type II Abernethy Malformation

Zhou

Ju-qiang

et al. 2020

Annals of Vascular Surgery

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Abernethy malformation is a very rare congenital vascular malformation consisting of diversion of portal blood away from liver, and it is commonly associated with multiple congenital anomalies. Here, we present a case of a male from China with nonspecific abdominal pain associated with an unusual pattern of type II Abernethy malformation, whose was diagnosed with a portosystemic shunt via a giant portal-inferior vena cava fistula (17.22 mm in diameter). The patient underwent a surgical ligation of the portocaval shunt and recovered well. We believe that this is the first case of a type II Abernethy malformation presenting as a portosystemic shunt via the giant portal-inferior vena cava fistula.

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“…Очаговые поражения печени могут быть единичными или множественными, к ним относят регенераторную узловую гиперплазию, очаговую узловую гиперплазию, печеночные аденомы / печеночный аденоматоз и гепатоцеллюлярную карциному [17][18][19][20][21][22]. Последнюю, как и тромбозы различной локализации и кровотечения, относят к осложнениям синдрома Абернети [23,24].…”

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Abernethy Malformation in Combination with Gilbert’s Syndrome

Губергриц¹,

Бондарь²,

Dyadyk

et al. 2020

Rossijskij žurnal gastroènterologii, gepatologii, koloproktolog

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Aim. To present a clinical case of the Abernethy syndrome.Key points. Abernethy syndrome is a rare vascular anomaly associated with a congenital absence of the portal vein, as a result of which portal blood from the intestines and spleen drains directly into the systemic circulation bypassing the liver though a complete or partial shunt. In the vast majority of cases, Abernethy syndrome is manifested during the newborn period by jaundice syndrome, hypergalactosemia and encephalopathy. In rare cases, this vascular malformation is diagnosed in older patients during ultrasound screening. A 31 year-old patient sought medical attention with the complaints of sleep disturbance and fatigue. The conducted instrumental observation revealed echo-signs of malformation (agenesia) of the portal vein, which was further confirmed by both X-ray-contrast computed tomography and the pathohistological analysis of liver biopsy slides. The genotype UGT1A1•28 confirmed Gilbert's syndrome. Neutropenia (0.8 × 109/L) with a drop in the level of segmented neutrophils up to 27% was regarded as shunt neutropenia. Number connection test confirmed shunt encephalopathy. Conservative therapy for correcting hepatic encephalopathy was prescribed, followed by a dynamic monitoring of the patient’s condition.Conclusion. Diagnosis of Abernethy malformation is important for choosing the right treatment for the timely correction of complications of the disease and early detection of adenoma or hepatocellular carcinoma.

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Abernethy malformation type 2: varied presentation, management and outcome

Cited by 16 publications

References 28 publications

Abernethy syndrome in Slovenian children: Five case reports and review of literature

Abernethy syndrome in Slovenian children: Five case reports and review of literature

Surgical Ligation for the Treatment of an Unusual Presentation of Type II Abernethy Malformation

Abernethy Malformation in Combination with Gilbert’s Syndrome

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