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Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

Authors

  • Ana M. Ramos-Leví MD,

    1. Division of Endocrinology, Metabolism and Nutrition, Hospital Universitario Clínico San Carlos, Madrid, Spain
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  • Ángel Díaz-pÉrez MD, PhD,

    1. Division of Endocrinology, Metabolism and Nutrition, Hospital Universitario Clínico San Carlos, Madrid, Spain
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  • María-JesÚs Sobrido MD, PhD,

    1. Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain
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  • Sergio PiÑeiro-Hermida BSc,

    1. Grupo de Medicina Xenómica, University of Santiago de Compostela and Center for Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Spain
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  • Patricia Blanco-Arias PhD,

    1. Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain
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  • JosÉ M. Cabezas-Agrícola MD,

    1. Division of Endocrinology and Nutrition, Hospital Clínico Universitario de Santuago de Compostela, Tv Choupana s/n, 15706 Santiago de Compostela, Spain
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  • Samuel I. Pascual-Pascual MD,

    1. Division of Neuropediatrics, Hospital Universitario La Paz, IDIPAZ, Madrid, Spain
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  • David AraÚjo-Vilar MD, PhD

    Corresponding author
    1. Division of Endocrinology and Nutrition, Hospital Clínico Universitario de Santuago de Compostela, Tv Choupana s/n, 15706 Santiago de Compostela, Spain
    • Division of Endocrinology and Nutrition, Hospital Clínico Universitario de Santuago de Compostela, Tv Choupana s/n, 15706 Santiago de Compostela, Spain
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    • Ph: Phone: +34 639 393 458, Fax: +34 981 559 937


Abstract

Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities. Methods: A 14-year-old 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-Marie-Tooth syndrome). Results: Physical examination revealed a Marfanoid habitus, mucocutaneous verrucous tumors, thyroid nodules, and cervical adenopathy. Genetic testing demonstrated the p.M918T mutation in the RET gene, and blood tests showed elevated levels of calcitonin. Conclusions: 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. Muscle Nerve, 2012

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