eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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4/2020
vol. 26
 
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abstract:
Case report

MEN2B syndrome – paediatric case report

Iga Zendran
1
,
Wojciech Szlasa
1
,
Gabriela Bis
1
,
Katarzyna Sondaj
1
,
Ewa Barg
2

1.
Faculty of Medicine, Wroclaw Medical University, Poland
2.
Department of Basic Medical Sciences, Wroclaw Medical University, Poland
Pediatr Endocrinol Diabetes Metab 2020; 26 (4): 211–215
Online publish date: 2020/08/21
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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

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