Background: Cystic fibrosis (CF) represents a prevalent autosomal recessive condition that predominantly impacts the respiratory and gastrointestinal systems. Abdominal pain in patients with cystic fibrosis is commonly linked to conditions including distal intestinal obstruction syndrome, pancreatitis, or hepatic disease. This case report presents a rare etiology of abdominal pain, specifically mesenteric vein thrombosis (MVT) attributed to hereditary thrombophilia, observed in a pediatric patient diagnosed with cystic fibrosis (CF).
Case Presentation: A 3-year-old female patient with a confirmed diagnosis of cystic fibrosis, established through a sweat chloride test, exhibited significant right lower quadrant (RLQ) abdominal pain. The initial diagnostic evaluation, comprising an abdominal series, laboratory assessments, and abdominal ultrasound, ruled out prevalent etiologies including DIOS, pancreatitis, and appendicitis. The presence of persistent pain necessitated additional diagnostic evaluation through a contrast-enhanced CT scan, which subsequently identified mesenteric vein thrombosis. The analysis of genetic testing revealed a homozygous mutation in the MTHFR C677T gene, which is suggestive of hereditary thrombophilia. These findings were corroborated through Sanger sequencing methodologies.
Conclusion: This case highlights the importance of evaluating uncommon conditions such as mesenteric vein thrombosis in pediatric patients with cystic fibrosis who exhibit atypical abdominal pain. An extensive diagnostic strategy, incorporating genetic analysis, is crucial for the prompt identification and focused intervention necessary to avert significant complications. Abdominal pain is a significant clinical symptom that may be associated with various underlying conditions, including cystic fibrosis, venous thrombosis, and mesenteric ischemia. Each of these conditions presents unique challenges in diagnosis and management, necessitating a comprehensive understanding of their pathophysiology and clinical implications.