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)

Myopathy may be associated with the syndrome of seroconversion in individuals infected by the human immunodeficiency virus (HIV) or may represent the initial symptom of AIDS. In 1990, 39-year old white, single homosexual who was admitted 1 month prior had experienced an episode of edema and pain in the left thigh that faded with the use of nonhormonal antiinflammatory drugs. 15 days later both forearms became enlarged accompanied by pain and erythema. Erythromycin and cefalexine were used without success. Intermittent fever started to appear before admission accompanied by dyspnea when straining. Examination showed tachypnea, oral candidiasis, and enlargement of both upper arms with pain and local erythema without articular involvement. Neurological examination revealed hypotonia and generalized hyperreflexia with intact muscle strength. Serology was positive for HIV, rheumatic activity tests were negative, and muscle biopsy indicated multifocal myonecrosis. Creatinine phosphokinase was 1019 IU (decrease to 44 IU after treatment), aldolase was 19 IU (decrease to 5.6 IU), and glutamic-pyruvic transminase was 50 IU (decrease to 22 IU). Radiography of the thorax indicated interstitial infiltration. Fiberoptic bronchoscopy indicated Pneumocystis carinii pneumonia. Sulfamethoxazole and trimetropim treatment cured the dyspnea and hypoxemia, but the enlargement of both arms progressed. Capillaroscopy indicated vasculitis that was treated without success with indomethacin (150 mg/day), for 7 days; prednisone (40-80 mg/day) for 10 days; and dexamethasone (280 mg/day) for 2 days. 6 days after methotrexate (50 mg/dose/week) treatment the fever disappeared and the enlargement in the extremities receded, but a lower dose of 7.5 mg caused the return of fever and edema in the right thigh. The myopathy remained asymptomatic for 5 months with a weekly dose of 15 mg of methotrexate.
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PMID:[AIDS and myopathy: report of a case and review of the literature]. 180 40

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