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Rare Biliary Tract Cancer in Children: Diagnosis and Treatment

Rhabdomyosarcoma of the biliary tract (BRMS) is a rare occurrence in children, accounting for a small percentage of all rhabdomyosarcoma cases. BRMS presents as a primary tumor in the biliary system, with the common bile duct being a common site. Due to its low incidence, there is limited literature available on this condition, mainly documented through case reports. Diagnosing BRMS poses a challenge due to the lack of specific symptoms and imaging difficulties, especially in pediatric patients. The role of surgery in treating BRMS has been a topic of debate, with some studies questioning the necessity of aggressive resection. However, chemotherapy is recognized as a crucial component in the treatment of BRMS, both pre and post-surgery.

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A case report of a 2-year-old child initially misdiagnosed with choledocholithiasis sheds light on the importance of clinical awareness in identifying BRMS. The patient’s diagnosis was confirmed through endoscopic retrograde cholangiopancreatography (ERCP), highlighting the significance of this diagnostic tool in managing BRMS. Subsequent treatment included surgery followed by chemotherapy, resulting in a successful outcome for the patient. The case emphasizes the need for heightened vigilance among healthcare providers when encountering such rare conditions in pediatric patients.

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Obstructive jaundice is a common clinical sign of BRMS, though in this case, the child presented with recurrent abdominal pain. Initial imaging suggested choledocholithiasis, underscoring the importance of considering biliary tumors in the differential diagnosis for unexplained symptoms. ERCP and biopsy are pivotal in accurately diagnosing BRMS, with ERCP being the preferred method due to its ability to provide definitive diagnosis with lower risks compared to other biopsy techniques.

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Surgery aims to achieve complete tumor removal while maintaining negative margins, known as R0 resection. For cases where R0 resection is not feasible, neoadjuvant chemotherapy or local radiotherapy may be considered. Studies have shown that the absence of surgical resection is associated with higher recurrence rates and mortality, emphasizing the importance of surgery in the treatment of BRMS. The case report demonstrates the successful application of surgery combined with chemotherapy in managing BRMS in pediatric patients.

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Despite the challenges posed by the rarity of BRMS, the case report provides valuable insights into the diagnosis and treatment of this condition. Clinicians are urged to include BRMS in their differential diagnosis for pediatric patients presenting with abdominal pain and jaundice. Early detection through tools like ERCP and a comprehensive treatment approach involving surgery and chemotherapy are crucial in achieving favorable outcomes for patients with BRMS.

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