Cases reported "Goiter"

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1/11. A case of amyloid goiter secondary to Crohn's disease.

    We herewith report a case of amyloid goiter secondary to Crohn's disease. The patient had been diagnosed as having Crohn's disease at the age of 15, and underwent right hemicolectomy at age 20. When he was 26 years old he complained of swelling of the anterior neck. Both TSH and thyroid hormones were within the normal range, and anti-thyroglobulin and anti-microsomal antibodies were negative. Only thyroglobulin was noticeably above the normal range. During the next year his goiter enlarged further and because he had a feeling of pressure he underwent total thyroidectomy. The presence of amyloid A protein in his surgical specimen led to the diagnosis of amyloid goiter. Although most cases of secondary amyloidosis are known to develop in neoplasms or chronic inflammatory diseases, our patient had no illness other than Crohn's disease. Perusal of literature revealed that Crohn's disease is rarely a cause of amyloid goiter.
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2/11. Amyloid goiter as the initial manifestation of systemic amyloidosis due to familial mediterranean fever with homozygous MEFV mutation.

    We describe a case of amyloid goiter revealing a systemic amyloidosis secondary to familial mediterranean fever (FMF) with homozygous MEFV mutation, and we review the literature. A 45-year-old euthyroid Sephardic man, known to suffer from FMF, developed a goiter with cold nodule, after which a subtotal thyroidectomy was performed. Histologic evaluation revealed diffuse AA amyloid deposition without any associated thyroid neoplasia. At that time, no other organ was found to be affected by amyloidosis. colchicine and levothyroxine were prescribed. Eight years later, the patient presented with a rapidly growing neck enlargement. He reported that he had discontinued colchicine therapy 2 years earlier. The serum thyrotropin (TSH) and calcitonin levels were normal. Renal, digestive, and salivary gland biopsies confirmed the presence of systemic AA amyloidosis. Despite the reintroduction of colchicine, the onset of compressive symptoms led to the completion of the total thyroidectomy. The histopathology again demonstrated amyloid deposition, and excluded a malignant neoplasm. Nine cases of amyloid goiter associated with FMF have been reported in the literature; none of them had an amyloid goiter as the first manifestation of systemic amyloidosis. To our knowledge, this is the first case of FMF in which an amyloid goiter preceded the development of secondary systemic amyloidosis. The cessation of colchicine therapy may have played a role in local relapse and the secondary spread of amyloid deposits.
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3/11. Follicular carcinoma of the thyroid with hyperthyroidism. A case report.

    BACKGROUND: Follicular carcinoma of the thyroid in association with hyperthyroidism is rare. The malignant lesion may remain occult for a long time. Certain clinical and cytologic features may be helpful in raising the alarm. CASE: An elderly male with a history of occupational exposure to X rays, long-standing toxic multinodular goiter and clinical hyperthyroidism presented with a rapidly enlarging mass in the neck. Cytologic smears showed a prominent microfollicular pattern, scanty colloid, anisonucleosis and nuclear overlapping. The noteworthy feature was the presence of marginal vacuoles. The cytologic diagnosis of follicular neoplasm with highly suggestive malignancy was made. Subsequently, multiple pulmonary nodules provided radiologic evidence of possible metastatic spread. CONCLUSION: This case report demonstrates the rare association of follicular carcinoma of the thyroid with hyperthyroidism and analyzes certain high-risk clinical and cytologic features to be considered in the follow-up of long-standing hyperfunctioning multinodular goiter.
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4/11. Cytological features of dyshormonogenetic goiter: case report and review of the literature.

    Dyshormonogenetic goiter is a rare cause of congenital goiter occurring due to a lack of enzymes necessary for the synthesis of thyroid hormones. We present a case of dyshormonogenetic goiter diagnosed on cytology. Correlation with the history, clinical findings, levels of thyroid hormones and other investigations is imperative for the diagnosis. The degree of hyperplasia is severe enough to prompt a diagnosis of malignancy, particularly follicular neoplasm. An accurate diagnosis helps to constitute proper therapy and prevents surgery.
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5/11. Hypercalcitoninemia in a patient with a recurrent goitre and insulinoma: a case report.

    serum calcitonin has become a very sensitive and specific marker for medullary thyroid carcinoma that should be determined in patients with nodular thyroid disease. However, a few earlier reports indicated that tumors other than medullary thyroid carcinoma including insulinomas arising from pancreatic islet cells may also produce calcitonin. Of the few cases of calcitonin-producing insulinomas previously reported, most had incomplete data or lack of documentation of the association between raised serum calcitonin concentration and immunohistochemical detection of calcitonin in pancreatic islet cell tumors. In this paper we are reporting a 54-year-old woman with a history of partial thyroidectomy for multinodular goitre at the age of 50 yrs, she was evaluated for a 2-months history of fasting hypoglycemia (plasma glucose 1.9 mmol/L during a supervised fast), raised serum insulin (at the time of hypoglycemia 88.8 microU/ml; normal, 5 - 35 microU/ml) and c-peptide levels (at the time of hypoglycemia 6.1 ng/ml; normal, 1.37 - 3.51 ng/ml), markedly increased serum calcitonin concentration (481 pg/ml; normal, < 9.9 pg/ml), and an enlarged residual thyroid gland. Aspiration biopsy of the thyroid was negative for parafollicular C-cell hyperplasia or medullary thyroid carcinoma. Abdominal ultrasound and CT scan revealed a tumor in the head of the pancreas, which was surgically removed. Histopathological evaluation of the pancreatic tumor showed typical features of a neuroendocrine neoplasm with strong immunostaining for both insulin and calcitonin. After removal of the pancreatic tumor, clinical symptoms resolved and biochemical markers normalized (serum insulin, 14.9 microU/ml; c-peptide, 3.0 ng/ml; calcitonin, 2.9 pg/ml) confirming the causal relationship between insulinoma and markedly increased serum calcitonin levels.
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6/11. Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases.

    OBJECTIVE AND IMPORTANCE: Lhermitte-Duclos disease, or dysplastic cerebellar gangliocytoma is a rare entity characterized by a hamartomatous lesion in the posterior fossa. Cowden's syndrome, or hamartoma-neoplasia syndrome is a rare underdiagnosed autosomal dominant genodermatosis with high incidence of malignant tumors. Several recent reports suggest that Lhermitte-Duclos disease may be a component of Cowden's syndrome. CLINICAL PRESENTATION: We report two cases of Lhermitte-Duclos and Cowden disease occurring in adult patients. A 40-year-old woman had symptoms of raised intracranial pressure and macrocephaly. She displayed the stigmata of fibrocystic breast disease, thyroid goitre. Clinical examination showed mucocutaneous lesions. Her mother, brother and uncle had manifestations of Cowden's disease. An asymptomatic 38-year-old male had bilateral optic nerve drusen related to a cerebellar neoplasm. He exhibited manifestations of Cowden's syndrome and his familial history confirmed this hypothesis. INTERVENTION: The first patient was operated on for Lhermitte-Duclos disease. A conservative strategy was performed for the second patient and the clinical and imaging follow-ups were uneventful over 5 years. CONCLUSION: We stress the possibility that Lhermitte-Duclos and Cowden disease might be a peculiar form of phakomatosis. A conservative strategy can be chosen without neurological signs because of slow tumor growth. However, these patients should be carefully examined and followed up because of the risk of future malignancy.
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7/11. Malignant teratoma in the thyroid gland of an adult: a case report and a review of the literature.

    Teratomas in the neck are rare neoplasms. Most occur in the neonate and are benign. In contrast, cervical teratomas in adults are malignant and carry a poor prognosis. Fourteen adult cases have been reported in the world literature, and 11 of these were stated to have arisen in the thyroid gland. A case of a 27-year-old man who presented with a large goiter is reported. A preoperative diagnosis of a malignant thyroid mass was suggested by clinical examination, needle aspiration, and computerized tomography. The patient had a subtotal debulking thyroidectomy. The pathologic specimen confirmed a primary malignant teratoma of the thyroid gland. Despite a combination of radiotherapy and chemotherapy, which were well tolerated, the patient died 2 months after surgery.
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8/11. High-dose radiation and the emergence of thyroid nodular disease.

    High-dose radiation (in excess of 2500 rads or centiGray) to the head and neck area is reputedly infrequently associated with the emergence of thyroid nodular disease. Thirty-three patients who underwent high-dose radiation and who developed thyroid nodular disease have been described. radiation was originally administered for hyperthyroidism in 11 patients, postmastectomy in five, oral cancer in three, Hodgkin's disease in three, facial hirsutism in three, hemangioma in three, cancer of the larynx in one, skin cancer in one, desmoid tumor of the neck in one, Ewing's tumor in one, and pituitary tumor in one. Treatment included radioiodine in 11, external radiation in 21, interstitial radiation in one, and combined radiation in one. Associated head and neck neoplasms included four parathyroid tumors, one osteogenic sarcoma of the maxilla, two basal cell cancers of the facial skin, and one parotid gland carcinoma. The study group consisted of five men and 26 women varying in age from 22 to 75 years, with a duration of latency of effect varying from 1.5 to 50 years. Thyroid disease consisted of 21 cancers, six adenomas, four colloid goiters, and two cases of thyroiditis resulting in four deaths caused by cancer, for a 20% mortality rate. Consideration of radiation beam behavior showed that isodose curve, penumbra effect, back scatter, and special field resulted in the thyroid gland receiving a low dose, namely under 2500 rads. Clinical factors such as an overlooked goiter, coincidental carcinoma, error in presumption of dose, and second primary malignancy were also considerations. True biologic radiation oncogenesis may have been seen in our radioiodine-treated group with hyperthyroidism as well as the group with Hodgkin's disease who underwent mantle irradiation. It is apparent that for whatever reason and by whatever means and by whatever mechanism, high-dose radiation to the head and neck area can result in significant thyroid disease, and patients undergoing such radiation should be followed with this in mind and considered for thyroid feeding on a prophylactic basis.
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9/11. Acinic cell carcinoma: its occurrence in the laryngotracheal junction after thyroid radiation.

    An acinic cell carcinoma of the laryngotracheal junction developed in a 54-year-old woman 46 years after administration of radiation to her thyroid gland. Although salivary gland neoplasia has been associated with a history of radiation therapy during childhood, acinic cell carcinoma in such a setting is rare. In addition, she had parathyroid hyperplasia and multiple thyroid adenomas, lesions that have been associated with prior administration of radiation. A history of exposure to radiation should be sought in patients with salivary gland neoplasms of the larynx or trachea.
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10/11. Carcinomas of the thyroid and breast associated with Pendred's syndrome: report of a case.

    We report herein the case of a 49-year-old woman with Pendred's syndrome who developed follicular carcinoma of the thyroid and invasive ductal carcinoma of the breast. To the best of our knowledge, this is the first case of different primary neoplasms developing in a patient with Pendred's syndrome.
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