Case report details a unique instance of Crohn's disease in a young patient with Down syndrome, highlighting diagnostic and treatment challenges.
Introduction: Down syndrome (DS) affects 1 in 787 live births, linked to congenital anomalies and intellectual impairment. Colorectal Crohn’s disease is prevalent in DS patients, presenting with fatigue, abdominal pain, and strictures, often treated with surgery, immunomodulators, and biotherapy for management. Case presentation: The patient presented with symptoms of abdominal pain, cramping, and significant bowel sounds, along with weight loss and a decreased appetite. Histopathological examination and upper endoscopy were used to diagnose the condition, and a gluten-free dietary treatment was implemented. Clinical discussion: Crohn’s disease can be diagnosed by several methods, including histopathology, and its treatment can involve various approaches, including dietary management. There is a connection with genetic diseases, and it is not necessary for all symptoms and signs of the disease to appear, as they often vary. Conclusion: DS with Crohn’s disease is considered a very rare condition, especially in low-income countries and at a young age. It should be taken into account when differentiating diagnoses in autoimmune and intestinal diseases.
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Hamad et al. (2025) studied this question.
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