Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nine children with Schwartz-Bartter-syndrome are described. Seven suffered from severe diseases of the CNS, 2 developed the syndrome during treatment with vincristine, the damaging action of which on the CNS is known. The main symptoms of the syndrome are: hyponatremia with consecutive hypotonia of the extracellular space caused by excessive urinary sodium loss. The plasma volume is not diminished. Therapeutically administered NaCl appears in the urine which is hyperosmolar in spite of the hypoosmolarity of the plasma. The increased secretion of ADH which Schwartz et al. postulated to be the cause of the syndrome has been confirmed in recent years. The organism attempts to excrete the increased fluid volume which is retained by ADH, probably by means of a natriuretic hormone, so-called third factor. Enhanced activity of such a factor was assessed in one of our cases.
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PMID:[The Schwartz-Bartter syndrome]. 403 15

Congenital panhypopituitarism is a rare disease. It may be a complication of tumors, craniocerebral trauma, infection, granulomatous diseases, vascular pathologies, etc. In many cases no primary disease causing panhypopituitarism is found (idiopathic form). A potential reason is interruption of the pituitary stalk due to ischemic etiology in patients with cord encirclement and/or other birth injuries leading to interruption of the axonal transport of ADH and oxytocin as well as hypothalamic releasing hormones. This explains the ectopy of the neurohypophysis without diabetes insipidus and the hypoplasia of the adenohypophysis. GH-deficiency causes short stature and metabolic disturbances, LH-FSH-deficiency amenorrhoea/oligomenorrhoea, loss of libido and secondary sexual characteristics, TRH-deficiency hypothyroidism and ACTH-deficiency hypotonia, weakness, loss of pigmentation. We report a case of congenital panhypopituitarism. MR imaging of the brain revealed a hypoplastic adenohypophysis and a hypoplastic pituitary stalk which was interrupted in its superior segment. An ectopic neurohypophysis was found located in the area of the hypothalamus ("hypothalamic hot spot"). The ectopic neurohypophysis showed strong enhancement after intravenous application of Gd-DTPA. MR imaging of the hypothalamic-hypophyseal axis is well suited for the differentiation between congenital and acquired forms of panhypopituitarism in clinically uncertain cases.
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PMID:[Neuro-MR-findings in primary panhypopituitarism]. 979 7