MEN2B syndrome - paediatric case report.

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.
PMID: 33191720 [PubMed - as supplied by publisher]

Source: Pediatric Endocrinology, Diabetes, and Metabolism - November 16, 2020 Category: Endocrinology Authors: Zendran I, Szlasa W, Bis G, Sondaj K, Barg E Tags: Pediatr Endocrinol Diabetes Metab Source Type: research