Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a male child with Russel's syndrome due to a pilocytic astrocytoma located in the diencephalic region is presented. The diagnosis was made in the 16th month of age, but symptoms began in the 4th months of life, when he started losing weight. By the time he was admitted weight was 6150g and he was 74cm tall, with an emaciated aspect, no panniculus adiposus, irritated, and with symptoms of intracranial hypertension. There was convergent strabismus, vertical nystagmus of the left eye and bilateral papilledema. Tendinous reflexes were exacerbated and he had spastic tetraparesis. The endocrine evaluation showed a basal raise of GH (23ng/ml), TSH (6.2mUI/1) and prolactin (26ng/ml). The first two hormones did not respond to the acute test with TRH, while prolactin had a poor response. He was submitted to radiotherapy with linear acceleration (total dose of 4000 rads) and surgery, during which the tumor could not be completely removed due to its large size. After 9 months, the child is doing well, with a considerable weight gain (2500g).
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PMID:[Russel's syndrome: diencephalic tumor in a child]. 211 20

A non-neoplastic syndrome of inappropriate secretion of TSH (ITSHS) was diagnosed in a hemithyroidectomized and clinically euthyroid 44-yr-old man, who also exhibited limping (Perthes' disease), genu valgum, pes supinatus and lateral nystagmus. Computed tomography demonstrated an enlarged sella turcica due to empty sella. Baseline serum T3, T4, free T3, free T4 and TSH fluctuated between 179 and 274 ng/dl, 6.0 and 13.2 micrograms/dl, 4.2 and 6.0 pg/ml, 7.6 and 15.3 pg/ml, and 4.3 and 33.0 microU/ml, respectively. Serum alpha-TSH subunit was repeatedly normal (0.36-0.69 ng/ml) over the follow-up period (greater than 3 yr). No changes in serum liver enzymes and lipids were observed after thyroid hormone administration, whereas red blood cell glucose-6-phosphate dehydrogenase (G-6-PD) and urinary OH-proline were slightly enhanced during 120 micrograms/day L-T3 regimen. This also resulted in an inappropriately normal glucagon-stimulated cAMP levels. Tachycardia was experienced only during L-T3 and very high L-T4 dose treatments. Therefore, the patient showed some evidence for thyroid hormone peripheral refractoriness. Patient's TSH was physiologically responsive to agents (thyrotropin releasing hormone, methimazole, the dopamine antagonists domperidone and sulpiride) known to elicit its release into circulation, while it responded paradoxically to those which normally inhibit TSH secretion. In fact, the infusion of somatostatin (320 micrograms/h) or dopamine (4 micrograms/Kg/min), and the oral administration of bromocriptine or nomifensine (two dopamine agonists) or corticosteroids (dexamethasone) provoked an unexpected elevation of both unstimulated and TRH-stimulated TSH levels.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Abnormal daily periodicity of serum thyrotropin (TSH) and evidence for defective TSH suppression in a case of non-neoplastic syndrome of inappropriate TSH secretion. 358 59