DOI: https://doi.org/10.36347/sjmcr.2026.v14i04.038

Pages: 748-751

Medullary thyroid carcinoma (MTC) in children is a rare tumour, accounting for approximately 5% of paediatric thyroid cancers. In more than 95% of cases, it occurs in a hereditary context related to a germline mutation of the RET gene, observed in MEN 2A, MEN 2B syndromes or in familial forms of MTC. We report a rare case of metastatic MTC in a 13-year-old child, revealed by a compressive goitre. The initial assessment showed a very high preoperative calcitonin level. The patient underwent a total thyroidectomy with targeted removal of the most suspicious lymph nodes, as a complete cervical lymph node dissection could not be performed due to significant adhesions. Pathological examination confirmed the diagnosis of MTC. Staging revealed distant metastases. Genetic analysis, however, did not find any RET proto-oncogene mutations. Treatment will be discussed at a multidisciplinary meeting in order to define the most appropriate and personalised strategy for this patient.