Zendran I, Szlasa W, Bis G, Sondaj K, Barg E. MEN2B syndrome – paediatric case report. Pediatric Endocrinology Diabetes and Metabolism. 2020;26(4):211-215. doi:10.5114/pedm.2020.97462.
APA
Zendran, I., Szlasa, W., Bis, G., Sondaj, K., & Barg, E. (2020). MEN2B syndrome – paediatric case report. Pediatric Endocrinology Diabetes and Metabolism, 26(4), 211-215. https://doi.org/10.5114/pedm.2020.97462
Chicago
Zendran, Iga, Wojciech Szlasa, Gabriela Bis, Katarzyna Sondaj, and Ewa Barg. 2020. "MEN2B syndrome – paediatric case report". Pediatric Endocrinology Diabetes and Metabolism 26 (4): 211-215. doi:10.5114/pedm.2020.97462.
Harvard
Zendran, I., Szlasa, W., Bis, G., Sondaj, K., and Barg, E. (2020). MEN2B syndrome – paediatric case report. Pediatric Endocrinology Diabetes and Metabolism, 26(4), pp.211-215. https://doi.org/10.5114/pedm.2020.97462
MLA
Zendran, Iga et al. "MEN2B syndrome – paediatric case report." Pediatric Endocrinology Diabetes and Metabolism, vol. 26, no. 4, 2020, pp. 211-215. doi:10.5114/pedm.2020.97462.
Vancouver
Zendran I, Szlasa W, Bis G, Sondaj K, Barg E. MEN2B syndrome – paediatric case report. Pediatric Endocrinology Diabetes and Metabolism. 2020;26(4):211-215. doi:10.5114/pedm.2020.97462.
Multiple endocrine neoplasia 2B (MEN 2B) is a rare syndrome caused by mutation of the RET proto-oncogene. Early-onset medullary
thyroid carcinoma (MTC), marfanoid habitus, and mucosal neuromas occur in most cases, and some patients develop pheochromocytoma in later life. We present a case of a 16-year-old girl diagnosed with MEN 2B syndrome with an atypical course of the disease.
Our patient had no family history of MTC and presented short stature instead of marfanoid features. Rare ophthalmological manifestations also occurred. The example of this patient proves that rare endocrinological syndromes should be taken into consideration
when diagnosing unclear symptoms, even if not all of the typical manifestations are present.
Keywords
MEN 2b, multiple endocrine neoplasia, paediatric patient, short stature, medullary thyroid cancer
