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

作者：Ramos Levi Ana M; Diaz Perez Angel; Sobrido Maria Jesus; Pineiro Hermida Sergio; Blanco Arias Patricia; Cabezas Agricola Jose M; Pascual Pascual Samuel I; Araujo Vilar David^*

来源：MUSCLE %26 NERVE, 2012, 46(6): 961-964.

DOI：10.1002/mus.23466

• axonal neuropathy
• Charcot-Marie-Tooth syndrome
• medullary thyroid carcinoma
• MEN 2B
• RET

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 46: 961-964, 2012

• 出版日期2012-12