{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T18:14:35Z","timestamp":1759515275762},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,11,26]],"date-time":"2012-11-26T00:00:00Z","timestamp":1353888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Conseller\u00eda de Innovaci\u00f3n, Xunta de Galicia","award":["07CSA017228PR"],"award-info":[{"award-number":["07CSA017228PR"]}]},{"name":"Instituto de Salud Carlos III and European Regional Development Fund, FEDER","award":["PI081449"],"award-info":[{"award-number":["PI081449"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities. <jats:italic>Methods:<\/jats:italic> A 14\u2010year\u2010old boy with a family history of consanguinity developed progressive gait clumsiness, pes cavus, hypotonia, and mucosal tumors of the lips and tongue since the age of 3 years. At age 11 years, he was diagnosed with an hereditary motor neuropathy (Charcot\u2010Marie\u2010Tooth syndrome). <jats:italic>Results:<\/jats:italic> Physical examination revealed a Marfanoid habitus, mucocutaneous verrucous tumors, thyroid nodules, and cervical adenopathy. Genetic testing demonstrated the p.M918T mutation in the <jats:italic>RET<\/jats:italic> gene, and blood tests showed elevated levels of calcitonin. <jats:italic>Conclusions:<\/jats:italic> Clinical suspicion in MEN2 is crucial for early diagnosis and subsequent therapy. Mucosal neuroma and a Marfanoid habitus are especially useful. Other neurologic manifestations should not disguise the endocrine disorder, because early diagnosis and treatment of medullary thyroid carcinoma determines the prognosis. 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