Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 61-year-old Caucasian man presented with otalgia, dysarthria, and weight loss. Neurological examination revealed palatal hypomotility, and weakness of the facial and tongue muscles. Magnetic resonance imaging of the head demonstrated the presence of a soft tissue mass in the clivus. Histologic examination of resected tumor disclosed well-differentiated thyroid follicles that invaded the local osseous tissues. Physical examination and radioiodine images of the thyroid gland were normal. The serum thyroglobulin concentration was markedly elevated (1011 ng/mL). A 0.9-cm well-differentiated benign-appearing left thyroid lobe follicular neoplasm with a thick fibrous capsule was found following diagnostic thyroidectomy. This report illustrates that clinically significant distant metastases can arise from occult follicular thyroid neoplasms that, according to standard histologic criteria, are benign. The presence of a thick fibrous capsule, even in the absence of vascular or capsular invasion, may identify follicular neoplasms that have metastatic potential.
Thyroid 1995 Jun
PMID:Metastatic follicular thyroid carcinoma masquerading as a chordoma. 758 Feb 71

The case of a 50-year-old woman with cerebral meningioma and concomitant parathyroid adenoma and papillary thyroid carcinoma is presented. She complained of neurological symptoms characterized by right hemiparesis and dysarthria. Cerebral CT and MRI scans revealed a left voluminous frontal parasagittal lesion with the characteristics of a meningioma. Routine laboratory analysis revealed altered values of calcium-phosphorus metabolism. Intravenous infusion of saline solution at 0.9% of NaCl resulted in a reduction of serum ionized calcium. A left craniotomy was performed and a fibroblastic meningioma of 5 cm in diameter was removed. Even though the patient's clinical condition was good, a calcium-phosphorus metabolism test confirmed high plasma levels of ionized calcium and parathyroid hormone. Thyroid and parathyroid ultrasonography revealed multinodular goiter and a parathyroid lesion confirmed by 99mTc-TCO4 / 99mTc-MIBI scintigraphy. A left superior parathyroidectomy and total thyroidectomy were performed. Histological examination revealed a parathyroid adenoma and a small papillary carcinoma of 0.4 cm in the right thyroid lobe. As far as we know, this patient is the third case of meningioma associated with parathyroid adenoma and papillary thyroid carcinoma described in the literature.
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PMID:An unusual association of cerebral meningioma, parathyroid adenoma and thyroid papillary carcinoma. 1672

Thyroid hormones are known to be essential for growth, development and metabolism. Recently mutations in the SLC16A2 gene coding for the monocarboxylate thyroid hormone transporter 8, MCT8, have been associated with Allan-Herndon-Dudley syndrome (AHDS), an X-linked condition characterized by severe mental retardation, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia. Here we describe in detail the clinical and biochemical features in a boy affected by AHDS with severe neurological abnormalities and a novel de novo SLC16A2 gene insertion, 1343-1344insGCCC, resulting in a truncated protein lacking the last four transmembrane domains (TMDs) as well as the carboxyl cytoplasmic end. He presents mental retardation, axial hypotonia, hypertonia of arms and legs, paroxysmal dyskinesias, seizures. The endocrine phenotype showed low serum total and free thyroxine (T4), very elevated total and free triiodothyronine (T3) and normal thyrotropin (TSH) with blunted response to thyrotropin-releasing hormone (TRH). The latter finding was unexpected and suggested that the lack of functional MCT8 was counterbalanced at the thyrotrope cell level by high serum T3 concentration and/or by increased intrapituitary type 2 deiodinase (D2) activity. Our case constitutes a relevant contribution to better characterize this disorder and to elucidate the functional consequences of SLC16A2 gene mutations.
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PMID:Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. 2071 92

Hashimoto's encephalopathy (HE) is an acute encephalopathy associated with Hashimoto's thyroiditis. The majority of reported cases have been associated with hypothyroidism, while cases with hyperthyroidism are rare. The current study reported on a 56-year old female patient with HE, who was found to have progressively aggregated dysarthria, gait disturbance, somniloquy and delirium. Thyroid function tests revealed that the patient had hyperthyroidism, with high levels of anti-thyroid antibodies. Following treatment with corticosteroids, the neurological/psychiatric symptoms of the patient were relieved quickly. The one-year follow-up investigation indicated that there was no recurrence of the disease, demonstrating that the treatment administered for this rare case was effective.
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PMID:Hashimoto encephalopathy associated with hyperthyroidism: A case report. 2500 11

A 22-year-old male student with no past medical illness, presented with acute onset dysarthria, binocular diplopia, and dysphagia over 10 hours. On examination, he had tachycardia, hypertension, generalized hyper-reflexia, and bilateral pupil sparing oculomotor, troclear, abducens, trigeminal, facial, glossopharyngeal, and vagus nerve palsy. Rest examination was unremarkable. Facial nerve conduction study (NCS) showed decreased amplitude bilaterally and neurogenic pattern on electromyography. Limb NCS, repetitive nerve stimulation, neostigmine test, brain magnetic resonance imaging, cerebrospinal fluid, and biochemical tests were normal. Only positive tests were low thyroid-stimulating hormone (TSH) (<0.01), high free T3 (19.2 pmol/L), and high free T4 (39.2 pmol/L). Thyroid ultrasonography, anti-thyroid peroxidase, and anti-thyroglobulin antibody were normal. Patient was treated with anti-thyroid drugs, with which he completely recovered in 2 months. Though many cases with thyrotoxic myopathy have been reported, only few mention neuropathic cause of dysphagia or polyneuritis cranialis. Getting done thyroid function tests may be helpful in patients with polyneuritis cranialis of uncertain etiology.
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PMID:Polyneuritis cranialis with generalized hyperreflexia as a presenting manifestation of thyrotoxicosis. 2601 29

BACKGROUND Thyroid function is closely related to the cardiovascular system. Pericardial effusion is a well-known complication of hypothyroidism. It is common for massive pericardial effusion to progress to tamponed heart with hypotension, but not high blood pressure. CASE REPORT A 46-year-old woman presented to the hospital with dysarthria and left-side weakness of the upper limb which had started 30 minutes before her arrival at the hospital. The patient showed hypertensive emergency (213/124 mmHg) with intracerebral hemorrhage. Further evaluation for high blood pressure and transthoracic echocardiography demonstrated the presence of a large amount of pericardial effusion, and urgent pericardiocentesis was performed. The laboratory examination showed elevated thyroid-stimulating hormone and decreased free thyroxine level, leading to a diagnosis of primary hypothyroidism. The administration of current medications was maintained, including thyroid hormone replacement and anti-hypertensive drugs. CONCLUSIONS A rare case of profound hypothyroidism presenting with hypertensive crisis and massive pericardial effusion is described in this report.
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PMID:A Case of Profound Hypothyroidism Presenting with Hypertensive Emergency and Large Amount of Pericardial Effusion. 3256 35