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.
Subject(s)
Limb Deformities, Congenital/etiology , Peripheral Nervous System Diseases/etiology , Tongue Diseases/etiology , Adolescent , Humans , Limb Deformities, Congenital/genetics , Male , Multiple Endocrine Neoplasia Type 2b/complications , Multiple Endocrine Neoplasia Type 2b/genetics , Multiple Endocrine Neoplasia Type 2b/pathology , Peripheral Nervous System Diseases/geneticsABSTRACT
Se estudiaron 507 sueros desglosados así: 227 en obreros avícolas y 230 de un grupo control, con la técnica de inhibición de la hemaglutinación con un antígeno de Newcastle de procedencia nacional. El 36,3 de la población estudiada tenía anticuerpos, sin existir diferencias entre los grupos analizados, aunque en el grupo control se detectó un mayor porcentaje de reactores. Se recomienda efectuar otros estudios serológicos sobre la enfermedad de Newcastle, donde se emplea además de la inhibición de la hemaglutinación, la fijación de complemento u otra técnica serológica