Missed Perforated Appendicitis in a Nonverbal Patient with Autism and Duchenne Muscular Dystrophy: A Case Report

Background and Clinical Significance: A 4-year-old nonverbal boy with level 3 autism spectrum disorder and Duchenne muscular dystrophy (DMD) who was receiving chronic prednisone therapy presented to the emergency room with acute appendicitis. The diagnosis was significantly delayed due to atypical pain presentation, a potentially blunted inflammatory response from chronic steroid use, and an uncertain contribution from DMD-related muscle weakness. Case Presentation: The patient presented with five days of fever, poor oral intake, decreased stool output and behavioral changes. Initial physical examination and evaluation over two emergency department visits failed to establish the diagnosis. By the third visit, the patient exhibited abdominal distension, hypoactive bowel sounds, and bandemia. Computed tomography demonstrated perforated appendicitis with a walled-off abscess. Nonoperative management was unsuccessful, resulting in the development of multiple intra-abdominal abscesses that required percutaneous drainage. Following a 10-day hospitalization, the patient improved and was discharged. He subsequently underwent a scheduled laparoscopic appendectomy two months later, with pathology demonstrating persistent inflammation. Conclusions: This case raises awareness of the atypical presentation of pain in children with autism and the potential for DMD and chronic steroid therapy to complicate clinical assessment. These factors should prompt clinicians to maintain a low threshold for advanced imaging when clinical concern is present. It also illustrates the importance of close monitoring during nonoperative management of perforated appendicitis in medically complex or immunosuppressed children.