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)

Pituitary coma is a rare case of emergency and primarily due to ACTH and TSH deficiency. Pituitary coma occurs more often in patients with well-known pituitary deficiency than in patients with intrasellar tumor. Clinical manifestations are hypotonia, bradycardia, decreased skin and nipple pigmentation, muscle weakness, vomitus, nausea, obstipation, hypothermia, and hypoventilation. A postpartal agalactia is often the first sign of Sheehan's syndrome. Unlike primary adrenal insufficiency (Addison's disease) ACTH deficiency does not cause hyperpigmentation, hyperkalemia, or salt loss. The suspicion of pituitary coma requires replacement with 100 mg hydrocortisone iv, 200 mg hydrocortisone iv/24 h, 500 micro g levothyroxine iv and fluid substitution. Since thyroxine accelerates the degradation of cortisol and can precipitate adrenal crisis in patients with limited pituitary reserve, hydrocortisone replacement should always precede levothyroxine therapy. ACTH stimulation test, CRH stimulation test and insulin tolerance test (optional) should be performed after therapeutic compensation to determine pituitary function.
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PMID:[Hypophyseal coma]. 1468 87

The report presents a definition and causes of syncope in children. Syncope differs from other states with loss of consciousness by causes leading to decreased perfusion and resultant transient cerebral dysfunction with decreased muscle tone. The most common causes of syncope noted in almost 15% of children are neurocardiogenic. This group includes vasovagal, carotid sinus reflexive, situational (coughing, dysphagia, micturation and defecation disturbances) and post-exercise syncope. Another group is represented by orthostatic syncope that may be triggered by primary and secondary dis-autonomy, decreased blood volume (hemorrhage, diarrhea, Addison's disease), some medications and substances of abuse (alcohol). An important group, accounting for 2%-6% of all cases, are cardiogenic syncope, caused mainly by congenital/acquired obstructive cardiac sub- and valvar heart defects, various cardiomyopathies, some heart tumors (e.g. myxoma), exudative pericarditis, pulmonary embolus and hypertension, congenital and acquired coronary anomalies, various significant brady-tachyarrhythmias (sick sinus syndrome, supra- and ventricular tachycardias, congenital and acquired atrio-ventricular blocks). Subclavian steal syndrome as the cause of syncope is exceptional in children. Syncope does not include loss of consciousness due to neurological and metabolic (hypoglycemia) causes, hypoxia, hyperventilation with hypocapnia or CO intoxication. Differential diagnosis should also include pseudo-syncope (hysteria). Preliminary diagnostic management should include a detailed medical history, including family history, on the frequency and circumstances of syncope, sudden deaths, a physical exam with orthostatic assessment of peripheral blood pressure and standard ECG (heart rate, intraventricular and atrioventricular conduction defects, cardiac hypertrophy, arrhythmias, L-QT, changes in ST-T). Further specialist tests depend on preliminary findings.
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PMID:[Syncope in children and adolescents]. 1843 21

A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia. Addison's disease would, in fact, be quite challenging for the future management of this patient.This clinical quiz highlighted the importance of careful evaluation of all multiorgan symptoms occurring in a patient to prevent further complications.
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PMID:Rare case of nephrocalcinosis in a 14-year-old girl: Questions. 2738 92