Abstract
4/2020
vol. 26
Case report
MEN2B syndrome – paediatric case report
- Faculty of Medicine, Wroclaw Medical University, Poland
- Department of Basic Medical Sciences, Wroclaw Medical University, Poland
Pediatr Endocrinol Diabetes Metab 2020; 26 (4): 211–215
Online publish date: 2020/08/21
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.
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
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