IMPE Abstracts

Mother who began her illness at the age of 32 years with progressive weakness of extremities, weight loss and dysarthria, diagnosed 1 year later with metastatic medullary thyroid cancer, by DNA analysis of peripheral blood leukocytes (TGC-TGG mutation in codon 634 of the RET gene). A genetic study was performed in the family branch (3 children), with the result of heterozygous mutation in codon 634 of the RET proto-oncogene in 2 children of 11 and 5 years of age. Patient 1: Male, 11 years old, with no antecedents of importance, at interrogation refers weight loss of 3kg in 12 months, as well as pain and paresthesia of extremities and diaphoresis. On physical examination, weight P<1, Z-3.33, height P7, Z -1.44, normal head, regular forehead, uvula and palate without alterations, enlarged thyroid, irregular surface, hard consistency, without adenomegaly, normolinear chest, abdomen without visceromegaly, proportionate extremities, Tanner II/II genitals. The USG of his admission shows a lesion located in the left lobe measuring 9. 9 x 6. 4 mm rounded, with poorly defined borders and contours, containing within it an area of greater echogenicity and with intrinsic and peripheral vascularity. Pre surgical calcitonin: 303. Total thyroidectomy with lymph node emptying is performed 19.05.14, with transoperative result of medullary thyroid cancer, complications secondary pneumothorax. Histopathological report: classic infiltrating medullary thyroid carcinoma in left lobe 8 mm, metastasis of medullary carcinoma in juxta-thyroid lymph node in lower pole of right lobe, bilateral focal hyperplasia. Follow-up with PTH 10.07.2014: 28.4 pg/ml, 17.02.2015: 28.4 pg/ml. Patient 2: Male, 5 years old, with no relevant history, referred asymptomatic. On physical examination, weight P8, Z-1.39, height P20, Z -0.84, normal brain, adequate anterior hair implantation, regular forehead, straight palpebral fissures, regular nasal bridge, adequately implanted ear pinnae, well formed, palate and uvula intact, palpable thyroid without alterations, normolinear thorax, abdomen without visceromegaly, intact extremities, Tanner I/I genitalia. USG on admission without alterations. Pre-surgical calcitonin: 12 Total prophylactic thyroidectomy is performed 05/22/2014 with negative trans-surgical biopsy for malignancy, without complications. Histopathology report: thyroid measuring 3x1.5x0.8cm, dark brown color, multinodular surface. Follow-up with PTH 23.05.2014: 3.56 pg/ml, 10.07.2014: 727 pg/ml, 22.07.2014: 654 pg/ml. Medullary thyroid carcinoma includes 1-2% of all thyroid cancers, up to 20% of cases can be predicted due to autosomal dominant germline mutations, its early detection is considered a challenge due to its rarity, however complete surgical resection is considered the only definitive treatment.