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Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: A case report

ABSTRACT: Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: a case report Abernethy malformation is a rare congenital vascular abnormality defined by the diversion of portal blood flow to the inferior vena cava or its tributaries. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy but variables in timing and symptomatology. Herein, we present a 6-year-old boy was referred to our hospital with complaints of hematochezia, hematuria, fecal, and urinary incontinence. A diagnosis of type 1b malformation was made depending on magnetic resonance angiography and cardiac catheterization findings, which demonstrated that the superior mesenteric vein and splenic vein joined to form a common trunk measuring 38 mm diameter and then drained into the dilated inferior vena cava with the absence of portal vein abnormalities in the liver. With further investigations, we indicated the presence of many arteriovenous malformations and urogenital abnormalities. The patient was managed conservatively.

SUBMITTER: Abdullah L

PROVIDER: S-EPMC9283795 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundAbernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.Case summaryA 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis, and chest computed tomography (CT) showed bronchiectasis. Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin). CF was diagnosed. The physician's attention was drawn to the presence of splenomegaly during disease progression. Abdominal enhanced CT revealed splenomegaly, compression of the left kidney, and multiple tortuous dilated vascular shadows were seen at the splenic hilum, which flowed back into the left renal vein and portal vein, suggesting Abernethy malformation type II. Intraoperatively, the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing, and the pathology of liver biopsy showed hypoplastic, dilated or absent portal vein branches, both of which supported the diagnosis of Abernethy malformation type II. This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.ConclusionCoexisting Abernethy malformation and CF are rare. Detailed medical history information, abdominal enhanced CT, venography and genetic testing contribute to diagnosis as well as differential diagnosis.

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Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: A case report

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