Multiple endocrine neoplasia type 2B – clinical case
Keywords:
MEN 2B, medullary thyroid carcinoma, RET proto-oncogenAbstract
We report the case of a 19-year-old white male presenting
marfanoid habitus, thickened corneal nerves, neuromas of
the tongue and lips, skeletal abnormalities, nodular lesion of
the adrenal gland, suggesting non-functioning adenoma, and
syringomyelia, who was referred to the department of Internal
Medicine to investigate a possible MEN2B syndrome. Medullary
thyroid carcinoma with pulmonary and cervical lymph node metastasis was diagnosed. Total thyroidectomy with central lymph
node dissection was performed. The molecular study confi rmed
the diagnosis of MEN2B, given the presence of the codon 918 in
RET exon 16 mutation in chromosome 10.
We discuss the need for early diagnosis (sometimes possible
because some features of this syndrome are present early in
life), aggressive therapy and familial screening, considering the syndrome’s high mortality rate.
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