Procesul inflamator intestinal la copil la debut: între suspiciune clinică și confirmare diagnostică – raport de caz

Abstract

ABSTRACT Introduction. Inflammatory bowel diseases (IBD) are chronic inflammatory disorders of the gastrointestinal tract, with a steadily increasing incidence in the pediatric population. Early diagnosis of Crohn’s disease remains challenging because initial clinical manifestations are often nonspecific and may mimic other gastrointestinal conditions. Delayed diagnosis may lead to progression of intestinal inflammation, nutritional impairment, and disease-related complications. The aim of this case report was to highlight the diagnostic pathway leading to the confirmation of pediatric-onset Crohn’s disease and to evaluate the early response to biological therapy. Materials and Methods. We analyzed the case of an 11-year-old boy admitted to the Pediatric Gastroenterology Department with chronic abdominal pain, poor appetite, rectal bleeding, iron-deficiency anemia, and persistent inflammatory syndrome. Diagnostic evaluation was performed according to ESPGHAN recommendations and included detailed medical history, physical examination, laboratory investigations, fecal calprotectin measurement, immunological profiling for inflammatory bowel disease, upper gastrointestinal endoscopy, ileocolonoscopy with biopsies, and histopathological assessment. Clinical, laboratory, immunological, and endoscopic findings were integrated to establish the final diagnosis and therapeutic strategy. Results. The patient had a 3–4-month history of recurrent abdominal pain, decreased appetite, pallor, and blood-streaked stools. Physical examination revealed an asthenic constitution (BMI 16.7 kg/m²), periumbilical and left lower quadrant abdominal tenderness, and clinical signs of anemia. Laboratory investigations demonstrated microcytic hypochromic anemia (hemoglobin 101 g/L), severe iron deficiency (serum iron 2.3 μmol/L), elevated erythrocyte sedimentation rate (up to 59 mm/h), increased Creactive protein levels, and elevated interleukin-6 (7.2 pg/mL), indicating active systemic inflammation. Fecal calprotectin was positive. Immunological testing revealed positive anti-Saccharomyces cerevisiae antibodies (ASCA IgA), whereas pANCA, cANCA, and other autoimmune markers were negative. Ileocolonoscopy demonstrated active terminal ileitis characterized by mucosal congestion, marked granular hyperplasia, superficial ulcerative lesions, and pronounced mucosal friability, without extensive colonic involvement. Upper gastrointestinal endoscopy revealed erosive reflux gastropathy, erythematous duodenopathy, and grade I reflux esophagopathy. Stool examinations for intestinal parasites were negative. Based on the clinical, laboratory, immunological, and endoscopic findings, a diagnosis of ileal Crohn’s disease with moderate-to-severe inflammatory activity was established. Considering disease severity and the risk of progression, induction therapy with golimumab (100 mg) was initiated. At the two-week follow-up assessment, the patient achieved early clinical remission, characterized by complete resolution of abdominal pain, normalization of appetite, improvement in general condition, and a weight gain of approximately 2 kg, with good treatment tolerance. Conclusions. Pediatric Crohn’s disease may initially present with nonspecific clinical manifestations and persistent inflammatory abnormalities, contributing to diagnostic delay. The combination of iron-deficiency anemia, systemic inflammation, positive ASCA serology, and active terminal ileitis enabled early diagnostic confirmation. Ileocolonoscopy with terminal ileum assessment remains the cornerstone investigation for establishing the diagnosis. Early initiation of biological therapy was associated with rapid clinical improvement and nutritional recovery, underscoring the importance of prompt diagnosis and a multidisciplinary approach in the management of pediatric Crohn’s disease.