1/35. Gouty os trigonum tarsi: case report.Os trigonum tarsi is found in 7% of the world adult population. However, it rarely causes symptoms. The majority of patients with os trigonum tarsi are found incidentally. This condition is often found in ballet dancers, javelin throwers and soccer players. It rarely produces symptoms in normally active adults. The etiology of os trigonum syndrome is impingement of an unfused ossicle or a fractured posterior lateral tubercle of talus over the posterior rim of tibial plafond. We present a case of os trigonum syndrome in a young man. His posterior heel pain was due to tophaceous gout around the os trigonum tarsi, instead of the common pathogenesis of repeated hyperflexion of the ankle joint. Pictures of the specimen showed marked giant cell reaction which resulted in pseudotumor formation. We reviewed the clinical characteristics of os trigonum tarsi and gout and present the treatment of our patient.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
2/35. Case report. Initial manifestation of gout after carpal tunnel release.A carpal tunnel release was performed on a patient with recurrent carpal tunnel syndrome and asymptomatic hyperuricaemia with no prior history of gouty arthritis. Intraoperatively, the patient was found to have tenosynovitis without crystals or tophaceous deposits in the carpal tunnel. Postoperatively, the patient developed an acutely inflamed hand, which responded dramatically to anti-gout medications. We report this patient as an initial attack of gout after a carpal tunnel release.- - - - - - - - - - ranking = 0.5keywords = syndrome (Clic here for more details about this article) |
3/35. Tophaceous gout: a case of bilateral carpal tunnel syndrome.Gouty tenosynovitis may present as infection, tendon rupture, nerve compression and/or digital stiffness. We report a case of tophaceous gout which presented as bilateral carpal tunnel syndrome.- - - - - - - - - - ranking = 2.5keywords = syndrome (Clic here for more details about this article) |
4/35. The diagnostic role of the in vitro drug-induced interferon-gamma release test in stevens-johnson syndrome.BACKGROUND: Drug-related T-cell activity in cutaneous drug reactions may be assessed by in vitro cytokine release tests. The diagnostic role of in vitro drug-induced interferon-gamma (IFN-gamma) release was evaluated in a patient with stevens-johnson syndrome. CASE REPORT: stevens-johnson syndrome was diagnosed in a 58-year-old man, treated with colchicine (1 mg daily for 39 days) and allopurinol (300 mg daily for 13 days). Based on a clinical-epidemiologic score, allopurinol was more likely to be the causative agent. in vitro drug-induced IFN-gamma release test was conducted on this patient and on two controls, using an enzyme-linked immunoabsorbent assay (ELISA) technique. Increased IFN-gamma release was observed following an in vitro challenge of the patient's lymphocytes with allopurinol, but not following in vitro challenge with colchicine. An in vitro challenge with allopurinol in two control patients, treated with allopurinol without adverse drug reactions, did not induce a significant increase in IFN-gamma release. CONCLUSIONS: The role of allopurinol as the drug responsible for the induction of stevens-johnson syndrome in our patient was confirmed by in vitro allopurinol-induced IFN-gamma release, which may indicate a drug-specific immune response.- - - - - - - - - - ranking = 3.5keywords = syndrome (Clic here for more details about this article) |
5/35. Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.A male child, who presented at the age of 3.5 years with acute renal failure, was diagnosed as having partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC 2.4.2.8). The underlying HPRT mutation was unique in that the specific activity of HPRT in erythrocyte and in fibroblast lysates was normal, but the rate of uptake of hypoxanthine into nucleotides of intact cultured fibroblasts was markedly reduced (23% of normal). The low functioning of HPRT in the intact fibroblasts was associated with decreased utilization of endogenously generated hypoxanthine and with decreased utilization of the cosubstrate 5-phosphoribosyl-1-pyrophosphate (PRPP). The non-utilized hypoxanthine was excreted into the incubation medium. The accumulation of PRPP was indicated by the 2.3-fold increase in the rate of uptake of adenine into intact cell nucleotides and by the 7. 5-fold enhancement of the rate of de novo purine synthesis. Kinetic studies of HPRT activity in fibroblast lysates revealed reduced affinity of the enzyme for PRPP (apparent K(m) 500 microM in comparison to 25 microM in control lysates), manifested in low activity at low (physiological), but not at high PRPP concentrations. The apparent K(m) for hypoxanthine was normal (23 microM in comparison to 14.2 microM in control lysates). With allopurinol treatment, our patient has had no problems since presentation, and is developing normally at 5 years of age.- - - - - - - - - - ranking = 2keywords = syndrome (Clic here for more details about this article) |
6/35. Gouty tenosynovitis of the wrist.A 56-year-old man presented with a mass of the right wrist limiting excursion of the digits. Operative exploration demonstrated gouty infiltration of the flexor tendons. The tendons were debrided of the urate crystalline material and the motion of the digits returned, preserving all tendon function. The patient later returned with symptoms of carpal tunnel in the contralateral wrist. Exploration of the carpal tunnel revealed similar infiltration of the flexor tendons. The tendons were debrided and the carpal tunnel syndrome resolved.- - - - - - - - - - ranking = 0.5keywords = syndrome (Clic here for more details about this article) |
7/35. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.Different degrees of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency are associated with hyperuricemia, uric acid nephrolithiasis and severe gout. Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating lesch-nyhan syndrome, characterized by choreoathetosis or self-mutilation. Here we present a 30 years old male patient suffering from gout and mild psycho-motor impairment without Lesch Nyhan disease despite severe HPRT deficiency residual activity 0.02% with hypoxanthine, no activity at all with guanine as a substrate. The Curto's theory that neurologic impairment is dependent on VGPRT/VHPRT ratio is not confirmed by our observations. The finding of such a severe HPRT deficiency in a non-Lesch-Nyhan patient needs further investigation. G6PD deficiency was also referred together with beta-thalassemic trait. We have studied purine and pyridine nucleotide metabolism in the erythrocytes and discussed the literature. The bone marrow sample shows a megaloblastyc aspect.- - - - - - - - - - ranking = 2.5keywords = syndrome (Clic here for more details about this article) |
8/35. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene.BACKGROUND: We have recently identified a mutation in the uromodulin gene in a large family affected with hyperuricemia, gout, and renal failure. The purpose of this investigation is to provide a comprehensive characterization of the clinical findings of this syndrome in family members who had a mutation in the uromodulin gene. methods: An extended family suffering from hyperuricemia and gout was identified by a local practitioner. After consent was obtained, patients provided a directed clinical history and blood and urine specimens for chemical and genetic testing. All family members were tested for the presence of uromodulin gene mutations by direct dna sequence analysis. The clinical and biochemical characteristics of family members carrying the affected mutation were then investigated. RESULTS: Thirty-nine family members were found to have an exon 5 uromodulin gene mutation (g.1966 1922 del), and 29 unaffected family members were identified. The cardinal clinical features in individuals with the uromodulin mutation included hyperuricemia, decreased fractional excretion of uric acid, and chronic interstitial renal disease leading to end-stage renal disease (ESRD) in the fifth through seventh decade. women did not always develop hyperuricemia or gout, but still developed progressive chronic renal failure. CONCLUSION: mutation of the uromodulin gene resulted in hyperuricemia, reduced fractional excretion of uric acid, and renal failure. genetic testing will be required to definitively identify individuals suffering from this condition. We are interested in studying other families that may suffer from this condition and would appreciate any such referrals.- - - - - - - - - - ranking = 0.5keywords = syndrome (Clic here for more details about this article) |
9/35. carpal tunnel syndrome secondary to intratendinous infiltration by tophaceous gout.carpal tunnel syndrome caused by gout is rare. We describe a case of entrapment of the median nerve secondary to intratendinous infiltration by gouty tophi in a 54-year-old man. The tophus was excised from the profundus tendon but the superficialis was too infiltrated and destroyed to be saved. The patient made an uneventful recovery with relief of his symptoms. This case illustrates the potential consequences this could have for hand function.- - - - - - - - - - ranking = 2.5keywords = syndrome (Clic here for more details about this article) |
10/35. carpal tunnel syndrome due to gouty infiltration of the lumbrical muscles and flexor tendons.A case of gout first presenting as carpal tunnel syndrome due to intratendinous and lumbrical muscle involvement with tophi is reported. Surgical decompression with excision of tophi and diseased muscle produced symptomatic relief.- - - - - - - - - - ranking = 2.5keywords = syndrome (Clic here for more details about this article) |
| | Next -> |