Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Feb 11;19(1):55.
doi: 10.1186/s12887-019-1422-x.

A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula

Lijian Xie  1 , Yun Li  1 , Xunwei Jiang  1 , Jian Zhao  1 , Tingting Xiao  2
Affiliations
Case Reports

A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula

Lijian Xie et al. BMC Pediatr. .

Abstract

Background: Abernethy malformation is an extremely rare congenital malformation characterised by an extrahepatic portosystemic shunt. Children with Abernathy malformation can develop hepatopulmonary syndrome (HPS) with pulmonary arteriovenous fistulas (PAVF) or pulmonary hypertension. PAVF manifests as central cyanosis with effort intolerance. We report a case of PAVF in a Ten-year-old Boy. Persistent symptoms identified Abernathy malformation as the cause of progressive symptoms and current understanding of this rare malformation is reviewed.

Case presentation: A case of 10-year-old boy with Abernethy malformation complicated with HPS initially managed as PAVF was presented. Selective lung angiography showed a typical diffuse reticular pattern on right lower lung, which suggested PAVF. However, cyanosis was not improved post transcatheter coil embolization. Then, liver disease was considered although the patient had normal aspartate aminotransferase and alanine aminotransferase. The significantly elevated serum ammonia was attracted our attention. Abdominal computed tomography also exhibited enlarged main portal vein (MPV), cirsoid spleen vein, and superior mesenteric vein (SMV). Angiography with direct opacification of the SMV with a catheter coming from the inferior vena cava (IVC) and going to the SMV via the shunt vessel (SHUNT) between the MPV and IVC. Occlusion the IVC with an inflated balloon, injection of contrast medium via a catheter placed in the SMV, MPV was showed and absence of intrahepatic branches. Abernethy malformation IB type is finally confirmed.

Conclusions: Abernethy malformation is an unusual cause for development of PAVF and cyanosis in children. Clinicians must be suspicious of Abernethy malformation complicated with HPS. If patients have abnormal serum ammonia and enlarged MPV in abdominal CT, cathether angiography should be done to rule out Abernethy malformation.

Keywords: Abernethy malformation; Hepatopulmonary syndrome; Pulmonary arteriovenous fistula.

PubMed Disclaimer

Conflict of interest statement

Ethics approval and consent to participate

The ethical approval and documentation for this case report were waived with approval from the Institutional Review Board of Shanghai Children’s Hospital.

Consent for publication

Written informed consent was obtained from the patient’s parents for publication of this case report including clinical data and any accompanying images.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
a A selective right pulmonary arteriogram showed diffuse reticular pattern on right lower lung, which suggested pulmonary arteriovenous fistula (PAVF). b Right lower pulmonary arteriogram with micro catheter showed diffuse and distorted PAVF. c After the coil embolization, pulmonary arteriovenous shunt was significantly reduced
Fig. 2
Fig. 2
An angiogram showed side to side communication between the main portal vein (MPV) and the inferior vena cava (IVC) in our case. a Angiography with direct opacification of the superior mesenteric vein (SMV) with a catheter coming from the IVC and going to the SMV via the shunt vessel (SHUNT) between the MPV and IVC. SMV and splenic vein (SV) are draining from a common trunk. b Occlusion the IVC with a inflated balloon, injection of contrast medium via a catheter placed in the SMV, MPV was showed and no intrahepatic branches were showed. So, our case is confirmed as Abernethy malformation IB type
See this image and copyright information in PMC

References

    1. Abernethy J. J Banks. Account of two instances of uncommon formation in the viscera of the human body. Phil Trans R Soc Lond 1793;83:59–66.
    1. Hao Y, Hong X, Zhao X. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): a case report and literature review. Oncol Lett. 2015;9(2):695–700. doi: 10.3892/ol.2014.2767. - DOI - PMC - PubMed
    1. Sokollik C, Bandsma RH, Gana JC, van den Heuvel M, Ling SC. Congenital portosystemic shunt: characterization of a multisystem disease. J Pediatr Gastroenterol Nutr. 2013;56(6):675–681. doi: 10.1097/MPG.0b013e31828b3750. - DOI - PubMed
    1. Witters P, Maleux G, George C, Delcroix M, Hoffman I, Gewillig M, Verslype C, Monbaliu D, Aerts R, Pirenne J, Van Steenbergen W, Nevens F, Fevery J, Cassiman D. Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol. 2008;23:e390–e394. doi: 10.1111/j.1440-1746.2007.05156.x. - DOI - PubMed
    1. Morgan G, Superina R. Congenital absence of the portal vein: two cases and a proposed classification system for portasystemic vascular anomalies. J Pediatr Surg. 1994;29:1239–1241. doi: 10.1016/0022-3468(94)90812-5. - DOI - PubMed

Publication types

MeSH terms

Supplementary concepts