Cases reported "Goiter, Nodular"

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1/148. Long-term follow-Up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr).

    A 18-year clinical follow-up period in a male patient with a germline TSH-R gene mutation (Met453Thr) is described. Nonautoimmune thyrotoxicosis was diagnosed at the age of 7 months. The patient had exophthalmus, failure to thrive, advanced bone age and no goiter. Long-term antithyroid drug treatment (ATD) was necessary during childhood. At the age of 7 years he developed a goiter. Subtotal thyroidectomy was performed at the age of 9 years, followed by repeated ablative radiotherapy at the age of 9.5-13 years due to a toxic multinodular goiter. After 13 years ATD could be discontinued and the patient was euthyroid until 16 years of age, where L-thyroxine substitution had to be started. The exophthalmus diminished, and had disappeared at the age of 18 years, when CT scan of the orbit was performed. Conclusion: TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. A very aggressive treatment strategy is necessary.
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2/148. Occult sclerosing carcinoma of the thyroid.

    A case of occult sclerosing thyroid carcinoma is reported. The primary requirement for diagnosis is that the cancer is less than 1.5 cm in diameter. In addition, a fibrosing component with varying degrees of sclerosis is present. Lymph node metastases are frequent and may appear as benign thyroid follicles. Occasional direct invasion or vascular invasion may occur. Distant metastases were not reported in the series reviewed. Adequate therapy would seem to be total thyroidectomy of the involved lobe and radical subtotal thyroidectomy of the opposite lobe with excision of all enlarged or involved lymph nodes.
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3/148. Bilateral recurrent nerve paralysis associated with multinodular substernal goiter: a case report.

    Substernal goiter is an infrequent occurrence and is found in two to five per cent of all patients undergoing thyroid surgery. These lesions are well known to cause respiratory symptoms and alterations in phonation due to direct compression of airway structures. Infrequently, unilateral recurrent nerve palsy has been reported in patients with substernal goiter. We report a case of bilateral recurrent nerve palsy associated with multinodular substernal goiter in an 89-year-old female who presented in respiratory distress.
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4/148. Visualisation of a paraganglioma by technetium-99m-sestamibi scintigraphy.

    A 68-yr-old woman presented to our observation with multinodular goiter and a contiguous right laterocervical mass. In spite of ultrasound, technetium and iodine scan, CT and fine-needle biopsy, the precise origin of the mass remained uncertain. On additional multi-phase sestamibi scan, the neck region showed an early high uptake rapidly decreasing over time in the laterocervical mass, and a persistent inhomogeneous distribution in the thyroid gland. This behavior suggested that the laterocervical mass could derive from an anatomical structure other than the thyroid. Surgical exploration established the extrathyroid nature of the laterocervical mass and the histological examination confirmed that it was a typical paraganglioma. This finding is in keeping with a recent report of positive sestamibi uptake in a cervical paraganglioma, although our case showed a more rapid kinetic. This tumor should be therefore taken into consideration in the differential interpretation of focal sestamibi uptake.
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5/148. Nocardia thyroiditis: unusual location of infection.

    nocardia asteroides complex is an important opportunistic agent in immunocompromised hosts. Usually, primary pulmonary infection occurs and is followed by dissemination of the pathogen to the central nervous system and soft tissues. As described in the literature, almost every organ can be infected, but to our knowledge, Nocardia has been described as a pathogen responsible for thyroid abscess in only one report, which was published in 1993. The present report is the second case report of Nocardia thyroiditis. The patient was under immunosuppressor treatment following a combined liver-kidney transplant and presented with a preexisting nodular goiter which was probably a predisposing factor to the start and development of the thyroid infection.
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6/148. A case of extraadrenal pheochromocytoma associated with adrenal cortical nodular hyperplasia and papillary thyroid carcinoma.

    A 64-year-old woman was admitted in November, 1996 for fluctuating blood pressure. There was multinodular goiter in her neck. High urine VMA and serum aldosterone were noted. Computed tomography showed an oval lesion in the left adrenal gland. Left adrenalectomy was performed and the pathology was proved to be adrenal cortical nodular hyperplasia. Fluctuating blood pressure and high urine VMA persisted after the operation. CT scan of the abdomen revealed a soft tissue mass in lower abdomen. The patient was admitted again in September, 1997. Laboratory examinations showed normal serum aldosterone, normal plasma renin activity and high urine VMA. Aspiration cytology of the thyroid gland disclosed papillary thyroid carcinoma. [131I]-metaiodobenzylguanidine image revealed a high uptake lesion in the right L-3 paravertebral area. Tumor excision and thyroidectomy were performed. The pathology was reported as extraadrenal pheochromocytoma and papillary thyroid carcinoma. Papillary thyroid carcinoma is rarely associated with pheochromocytoma. To our knowledge, this paper is the first report of a patient with extraadrenal pheochromocytoma associated with papillary thyroid carcinoma and adrenal cortical nodular hyperplasia.
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7/148. Invasion of the recurrent laryngeal nerve by adenoid cystic carcinoma. An unusual cause of true vocal fold paralysis.

    True vocal fold paralysis and goitre are both common problems encountered in ENT practice. Their co-existence, however, should arouse suspicion of the presence of malignant thyroid disease. A rare case of true vocal fold paralysis caused by a clinically occult subglottic adenoid cystic carcinoma, in a 72-year-old, is described. The existence of multinodular goitre in this patient was co-incidental and confounded the diagnostic process.
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8/148. Benign disease of the thyroid gland and vocal fold paralysis.

    Development of vocal fold paralysis in the presence of thyroid disease is strongly indicative of thyroid cancer, and requires surgical exploration. At the same time, vocal fold paralysis does not relieve the surgeon of his obligation to identify and preserve the recurrent laryngeal nerves, since the cause of the paralysis may be a benign disease, with a fair chance of functional recovery after surgery. We hereby report a case of recurrent laryngeal nerve palsy secondary to a multinodular goitre.
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9/148. Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na /I- symporter.

    iodine deficiency is the most important etiological factor for euthyroid endemic goiter. However, family and twin pair studies also indicate a genetic predisposition for euthyroid simple goiter. In hypothyroid goiters several molecular defects in the thyroglobulin (TG), thyroperoxidase (TPO), and Na /I- symporter (NIS) genes have been identified. The TSH receptor with its central role for thyroid function and growth is also a strong candidate gene. Therefore, we investigated a proposita with a relapsing euthyroid goiter and her family, in which several members underwent thyroidectomy for euthyroid goiter. sequence analysis of the complementary dna (cDNA) of the TPO and TSH receptor genes revealed several previously reported polymorphisms. As it is not possible to exclude a functional relevance for all polymorphisms, we opted for linkage analysis with microsatellite markers to investigate whether the candidate genes are involved in the pathogenesis of euthyroid goiter. The markers for the genes TG, TPO, and NIS gave two-point and multipoint logarithm of odds score analysis scores that were negative or below 1 for all assumed recombination fractions. As no significant evidence of linkage was found, we conclude that these candidate genes can be excluded as a major cause of the euthyroid goiters in this family. In contrast, we have found evidence for linkage of familial euthyroid goiter to the recently identified locus for familial multinodular nontoxic goiter (MNG-1) on chromosome 14q. The haplotype cosegregates clearly with familial euthyroid goiter. Our results provide the first confirmation for MNG-1 as a locus for nontoxic goiter.
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10/148. Recurrent pregnancy-related upper airway obstruction caused by intratracheal ectopic thyroid tissue.

    An unusual case of recurrent pregnancy-related thyroid growth stimulation is reported. A 27-year-old euthyroid woman had pulmonary symptoms, thought to be asthma during her first pregnancy, that improved postpartum. Bronchodilatators had no effect and symptoms recurred from gestational week 22 during her second pregnancy. Her 58-mL multinodular goiter (by ultrasound) was not thought to be responsible for her upper airway symptoms. Therefore, fiber laryngoscopy and computed tomographic (CT) scan were performed and revealed a 20 x 15 x 10 mm intratracheal tumor. After tracheostomy and microlaryngoscopy, benign goitrous thyroid tissue was removed through a tracheal fissure during gestational week 35. Postoperatively the patient had stopped medication and was without any pulmonary symptoms. The child was delivered by cesarean section in gestational week 39. apgar score was normal and the child has developed normally. We believe that this case illustrates the recurrent effect of pregnancy-related thyroid tissue stimulation by a combination of increasing human chorionic gonadotropin (hCG) stimulation and iodine deficiency in a borderline iodine-deficient region. This is the first report on symptomatic intratracheal ectopic thyroid tissue diagnosed during pregnancy.
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