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| CLINICAL IMAGE |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 129-131 |
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Abernethy Malformation
Khalid Saifullah, Mohd Saalim
Department of Radio Diagnosis, Jawaharlal Nehru Medical College, AMU, Aligarh, Uttar Pradesh, India
| Date of Submission | 01-Jan-2023 |
| Date of Decision | 09-Apr-2023 |
| Date of Acceptance | 11-Apr-2023 |
| Date of Web Publication | 24-May-2023 |
Correspondence Address:
Dr. Mohd Saalim
Room 11, SA-E-BAAN Building, Jamia Urdu Road, Aligarh, Uttar Pradesh
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ipcares.ipcares_1_23
How to cite this article:
Saifullah K, Saalim M. Abernethy Malformation. Indian Pediatr Case Rep 2023;3:129-31 |
A 5-year-old girl presented with a history of yellowish discoloration of eyes and skin for 4 days and fever for 7 days. There was no associated vomiting/decreased appetite/pain abdomen/rash. The child had no significant medical or surgical illness in the past. On examination, the child was found to be conscious, and her vitals were stable. She was febrile and icteric, without any pallor or edema. Abdominal examination revealed a tender, soft liver palpable 2 cm below the right costal margin. Other systems were within normal limits.
Investigations showed a total white cell count of hemoglobin of 14 g/dL, total white cell count of 11 × 109/L (neutrophils 62% and lymphocytes 32%), platelet count of 170 × 109/L, C-reactive protein 1 mg/L, and a negative Widal test. Blood culture showed no growth. Her liver function tests on the day of admission showed total bilirubin of 2.1 mg/dl with a direct bilirubin of 1.4 mg/dl and indirect bilirubin of 0.7 mg/dl, aspartate transaminase of 45 IU/L (normal values: 15–46 IU/L), alanine transaminase 65 IU/L (normal values: 13–69 IU/L), raised alkaline phosphatase 216 (normal values: 38–126 IU/L), and normal prothrombin time, INR 1.2. Viral markers for hepatitis B surface antigen and hepatitis C virus were negative.
Abdominal ultrasound showed hepatomegaly (11 cm) with normal echotexture. The gallbladder was normally distended with a normal caliber of the common bile duct and biliary radicles. The extrahepatic portal vein was normal in caliber and was seen draining into the inferior vena cava. In addition, the left kidney was hypoplastic with compensatory hypertrophy of the right kidney. The intrahepatic part of the portal vein was not visualized, and hence, the patient underwent contrast-enhanced computed tomography (CT) scan of the abdomen, which confirmed Abernethy malformation type Ib [Figure 1] and [Figure 2]. In addition, the left kidney was hypoplastic (size 4.0 cm × 2.5 cm) with maintained corticomedullary differentiation, associated with compensatory hypertrophy of the right kidney (size 11 cm × 9.5 cm). The CT also revealed intrahepatic gallbladder, which was subsequently confirmed on magnetic resonance cholangiopancreatography (MRCP) [Figure 3] and [Figure 4]. The MRCP was performed for suspicion of any abnormal biliary drainage. | Figure 1: Axial CECT abdomen at the level of the caudate lobe shows the absence of an intrahepatic portal vein. CECT: Contrast-enhanced computed tomography
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 | Figure 2: Coronal CECT abdomen MIP projection shows the formation of a short segment of the portal vein and its drainage into the IVC. CECT: Contrast-enhanced computed tomography, MIP: Maximum intensity projection, IVC: Inferior vena cava
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 | Figure 3: Coronal MRI - T2 GRE sequence (TRUFI) shows intrahepatic gallbladder with a relatively straight course of the cystic duct. MRI: Magnetic resonance imaging
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 | Figure 4: Coronal CECT abdomen shows hypoplastic left kidney with compensatory hypertrophy of the right kidney. CECT: Contrast-enhanced computed tomography
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To look for any associated congenital anomaly, the child underwent a thorough neurological examination, blood ammonia levels, echocardiography, and chest X-ray; all of which turned out to be normal.
The patient was managed conservatively and is currently under a close follow-up at 6 monthly intervals, monitoring her blood cell counts, liver function tests, and ultrasound of the abdomen to look for the development of hepatoma.
Abernethy malformation, a condition first described by John Abernethy in 1793, is a rare vascular malformation of the portal venous system. As per normal anatomy, there are no connections between the portal and the hepatic veins within the liver. In Abernethy malformation, blood in the superior mesenteric and splenic veins bypasses the liver and drains into a systemic vein.[1] Abernethy malformation or congenital extrahepatic portosystemic shunts (CEPS) has been classified into two types of shunts: Type I: where the liver is not perfused with portal blood due to a complete shunt, and there is an absence of intrahepatic portal veins; Type II: where the liver is perfused with portal blood in the presence of a partial shunt with a hypoplastic portal vein [Table 1]. Further, Type I shunt has been subclassified as Type Ia: where distinct splenic vein and superior mesenteric vein outflow into the systemic veins, and Type Ib: where a small extrahepatic portal vein is formed by the union of the superior mesenteric vein and splenic vein, which empties into a systemic vein (inferior vena cava, right atrium, or iliac veins). The image described by us is a Type Ib malformation.[2]
This condition has been described mostly in females with one-third of the reported cases being in children <5 years, consistent with our finding. The clinical presentation of CEPS is variable, ranging from an asymptomatic state to acute hepatic decompensation or cirrhosis. The malformation may be associated with other congenital anomalies, mostly with Type I, such as cardiovascular system (Tetralogy of Fallot and dextrocardia), gastrointestinal abnormalities (polysplenia, biliary and duodenal atresia, choledochal cyst, and intrahepatic gallbladder), and genitourinary, skeletal, and vascular systems.[3]
Early identification of the condition and monitoring are important, as these children have a risk of hepatic neoplasms, including benign focal nodular hyperplasia, hepatocellular adenoma, and hepatoblastoma. Occluding the shunt is not an option for Type 1 CEPS because it is the only pathway for the mesenteric and splenic venous blood drain. Consequently, liver transplantation is the recommended treatment. In Type II, shunt occlusion may be a successful therapy, which can be done surgically or using percutaneous transcatheter coil implantation.[3]
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Mistinova J, Valacsai F, Varga I. Congenital absence of the portal vein – Case report and a review of literature. Clin Anat 2010;23:750-8.  |
| 2. | Hu GH, Shen LG, Yang J, et al. Insight into congenital absence of the portal vein: Is it rare? World J Gastroenterol 2008;14:5969-79. |
| 3. | Kwapisz L, Wells MM, AlJudaibi B. Abernethy malformation: Congenital absence of the portal vein. Can J Gastroenterol Hepatol 2014;28:587-8. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]
[Table 1]
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