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)

We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.
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PMID:Hormonal change in an adult with Prader-Willi syndrome: report of a case. 791 75

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

A case of extreme wasting associated with amenorrhoea for eighteen months. On finding that the subject showed a fall of blood-pressure with unaltered pulse-rate on sitting up, anterior pituitary dysfunction (Simmonds' syndrome (?)) was diagnosed and prolan (Bayer) was administered. Following 100 units intramuscularly administered, the circulatory response became normal in twenty-four hours. The pulse rapidly improved in strength and all circulatory symptoms disappeared within a week. Weight increased at first rapidly, and the nutrition, skin and hair improved remarkably. Metabolism of sugar, as shown by glucose tolerance tests, became normal, and evidence for improvement in fat metabolism is brought forward.The study of the case goes to support the conclusion of Schellong that a function of the anterior pituitary is to influence the circulatory response to muscular effort. That hypotonia of itself is not responsible for the circulatory symptoms is shown by the failure of ephedrine (which raised the blood-pressure) to remove the circulatory symptoms.Contrary to some accepted beliefs, prolan, which is prepared from urine of pregnant mares, has a profound metabolic effect, as well as an effect on the ovary. The diagnostic value of the circulatory response in doubtful cases is discussed.
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PMID:Pituitary Cachexia with Disturbance of Circulatory Regulation. Result of Treatment with Prolan: (Section of Therapeutics and Pharmacology). 1999 Mar 12