Abernethy syndrome in Slovenian children: Five case reports and review of literature
| Autor: | Jerneja Pecek, Matjaž Homan, Petja Fister |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Gastrointestinal bleeding Abdominal pain medicine.medical_treatment Abernethy syndrome Liver transplantation Asymptomatic 03 medical and health sciences 0302 clinical medicine Congenital portosystemic shunt Case report Medicine Embolization Children business.industry Gastroenterology General Medicine medicine.disease Liver vascular malformation 030220 oncology & carcinogenesis Agenesis Abernethy malformation 030211 gastroenterology & hepatology medicine.symptom Portosystemic shunt business Infants Rare disease |
| Zdroj: | World Journal of Gastroenterology |
| ISSN: | 2219-2840 1007-9327 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|