Abstract

Background: Noonan syndrome is a rare genetic disorder from the group of RASopathies, characterized by facial dysmorphism, congenital heart defects, hematologic abnormalities, and growth impairment. Case Presentation: We report the case of an 8-year-old girl with Noonan syndrome admitted for evaluation of abdominal pain and failure to thrive. Hematological evaluation before EGD did not identify contraindications to biopsy, and initial laboratory tests, including coagulation parameters, were normal. Several hours after upper gastrointestinal endoscopy, the patient developed abdominal pain and coffee-ground vomiting. Abdominal ultrasonography revealed an intramural duodenal hematoma (58 × 37 mm), which was confirmed and further characterized by computed tomography as an extensive, long-segment lesion involving the duodenum. Progressive anemia required transfusion of blood products. Conservative management, including nasogastric decompression, parenteral nutrition, and pharmacological treatment, was implemented. Despite the severity and prolonged clinical course, gradual clinical and radiological improvement was achieved, and the patient was discharged in good general condition after one month. Conclusions: Intramural duodenal hematoma is an extremely rare complication of upper gastrointestinal endoscopy with duodenal biopsy. This case highlights the importance of individualized assessment and close monitoring in patients with Noonan syndrome, and indicates that this complication should be considered early when abdominal pain, vomiting, or progressive anemia develops after the procedure, even when hematological evaluation and baseline coagulation parameters are reassuring.

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