RESUMO
Introduction and significance: Portal vein thrombosis (PVT) is not commonly observed in patients, particularly those who have gone through neonatal intensive care unit (NICU) stays and had umbilical catheters. Although PVT can potentially cause hypertension and gastrointestinal bleeding it is highly unusual for this condition to manifest during childhood. Case presentation: The authors present a case of a 10-year-old child who developed portal hypertension, esophageal varices, and multiple thrombophilia associated mutations. This child was born prematurely. Had to stay in the NICU, where an umbilical venous catheter was used which likely triggered the development of PVT. At the age of 7 he started experiencing distension, anemia and low platelet count, which eventually led to splenectomy. On at the age of 10 he began experiencing episodes of bleeding. Was diagnosed with esophageal varices and portal gastropathy. Through procedures, like Histoacryl glue injection and band ligation bleeding was successfully controlled. Genetic analysis revealed mutations associated with thrombophilia. Clinical discussion: This case highlights how rare it is for older children to develop PVT and emphasizes the possibility of delayed onset symptoms following catheterization. The placement of catheters in NICUs can disrupt blood flow and increase the likelihood of clot formation. The presence of hypertension resulting from PVT can lead to complications such as varices. Effective control, over bleeding was achieved through interventions.Importantly, the presence of ACE I/D, FXIII Val34Leu, and Factor V Leiden mutations introduces an aspect to this scenario. It is worth noting that these mutations are not commonly linked to thrombophilia or clotting disorders. Conclusion: This case highlights pediatric PVT, emphasizing the need for a collaborative approach among gastroenterologists, hematologists, and geneticists. Further research is required to understand PVT mechanisms and long-term implications, aiding in diagnosis and management, especially when it appears in late childhood. Evaluation is crucial in deciphering thrombophilia-related complications in the context of hypertension.