Extra-Endocrine Features in Infancy as Early Clues to MEN2B.
Giulia Mirra, Annalisa Deodati, Armando Grossi et al.
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Case in brief
This case series discusses five pediatric patients diagnosed with multiple endocrine neoplasia type 2B (MEN2B), all carrying the RET proto-oncogene mutation (M918T). Each patient presented with extra-endocrine features such as chronic constipation, congenital clubfoot, and alacrimia during infancy. The identification of these manifestations allowed for early genetic diagnosis and timely surgical intervention, preventing the progression to metastatic medullary thyroid carcinoma.
Diagnostic / clinical pearl
Clinicians should be aware that extra-endocrine features in infancy, such as chronic constipation and congenital anomalies, can serve as early indicators of MEN2B, prompting timely genetic testing.
Why it matters
Recognizing these early signs can lead to earlier diagnosis and intervention, significantly improving patient outcomes by preventing the development of advanced medullary thyroid carcinoma.