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Familial achalasia with an autosomal dominant pattern of inherence: Report of a Vietnamese family

Case Study
  • Quach Trong Duc, Yuji Urabe, Toru Hiyama,
  • Pages 25-28

Current pathophysiologic knowledge of achalasia suggests the important involvement of genetic predisposition. However, familial achalasia is very rare and most of the case reports in literature have shown an autosomal recessive pattern of inherence. We hereby report a case of familial achalasia with autosomal dominant pattern of inherence affecting ten members in three generations of a Vietnamese family.

Graphical abstract

Budd-Chiari syndrome due to segmental obstruction of the inferior vena cava successfully managed with endovascular stenting

Case Study
  • Vo Pham Phuong Uyen, Quach Trong Duc, Dang Minh Luan, Luu Hieu Thao, Nguyen Dinh Luan,
  • Pages 22-26

Budd–Chiari syndrome (BCS), a rare and life-threatening disorder due to hepatic venous outflow obstruction, is occasionally associated with hypoproteinemia. We herein report the first case of BCS with segmental obstruction of the intrahepatic portion of inferior vena cava (IVC) and hepatic veins (HVs) successfully treated by endovascular stenting in Vietnam. A 32-year-old female patient presented with a 2-month history of massive ascites and leg swelling. She refused history of oral contraceptives use. Hepatosplenomegaly without tenderness was noted. Laboratory data showed polycythemia, mild hypoalbuminemia and hypoproteinemia, slightly high total bilirubin and normal transaminase level. The serum ascites albumin gradient was 1.9 g/dL and ascitic protein level was 1.1 g/dL. The other data were normal. BCS was suspected because of the discrepancy between mild liver failure and massive ascites; and the presence of hepatosplenomegaly and polycythemia. On abdominal magnetic resonance imaging, the segmental obstruction of three HVs and IVC was 2-3 cm long without thrombus. Cavogram revealed the severe segmental stenosis of intrahepatic portion of IVC with no visualized HV and extensive collateral veins. A Protégé stent was deployed to IVC. Leg swelling and ascites were completely resolved within 3 days after stenting. During 1-year follow-up, edema was not recurred and repeated laboratory results were all normal.

Graphical abstract