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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Despite the fact that gout is a common metabolic disorder, because its involvement of the axial skeleton is rare the diagnosis is often delayed, even in patients with long-standing gout who present with neurological deficits. The authors report the case of a woman with a history of extensive gout, emphasizing the clinical, radiological, and pathological features of a lumbar spinal stenosis.
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PMID:Topacheous gout as a rare cause of spinal stenosis in the lumbar region. Case report. 1573 37

There have been very few reports in the literature of gout and pseudogout of the spine. We describe six patients who presented with acute sciatica attributable to spinal stenosis with cyst formation in the facet joints. Cytopathological studies confirmed the diagnosis of crystal arthropathy in each case. Specific formation of a synovial cyst was identified pre-operatively by MRI in five patients. In the sixth, the diagnosis was made incidentally during decompressive surgery. Surgical decompression alone was undertaken in four patients. In one with an associated degenerative spondylolisthesis, an additional intertransverse fusion was performed. Another patient had previously undergone a spinal fusion adjacent to the involved spinal segment, and spinal stabilisation was undertaken as well as a decompression. In addition to standard histological examination material was sent for examination under polarised light which revealed deposition of urate or calcium pyrophosphate dihydrate crystals in all cases. It is not possible to diagnose gout and pseudogout of the spine by standard examination of a fixed specimen. However, examining dry specimens under polarised light suggests that crystal arthropathy is a significant aetiological factor in the development of symptomatic spinal stenosis associated with cyst formation in a facet joint.
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PMID:Crystal arthropathy of the lumbar spine: a series of six cases and a review of the literature. 1579 2

Gout or pseudogout, caused by deposition of crystals, rarely affects the spine. We report 4 cases with gout or pseudogout in the lumbar spine. Two had cauda equina syndrome and another 2 had spinal stenosis. To avoid unnecessary surgery, this should be considered in the differential diagnosis when treating patients with histories of gout or pseudogout for spinal problems.
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PMID:Crystal arthropathy of the lumbar spine: a report of 4 cases. 1742 28

The transcriptional regulator GATA1 is crucially involved in megakaryocytopoiesis and erythropoiesis. Mutations of the gene which is located on the X chromosome have been associated with platelet and red blood cell abnormalities. We identified a family with a GATA1 (G208R) mutation in whom a low male birth rate and frequent miscarriages among heterozygous females suggested increased fetal death in male hemizygotes. Female mutation carriers had normal or near normal hemoglobin levels and platelet counts ranging from normal to severely reduced, probably reflecting skewed X chromosome inactivation. Platelets were dimorphous, and thrombocytopenia was associated with erythroblastosis. The only living male mutation carrier had severe macrothrombocytopenia with life-threatening bleeding episodes, moderate to severe anemia, eosinopenia, skeletal abnormalities, and abundant extramedullary hematopoiesis. Long-term sequelae in the 50-year-old patient included unilateral nephrectomy following misinterpretation of paraspinal hematopoiesis as renal cancer, spinal stenosis which was possibly favored by progressive bone marrow expansion, and severe secondary gout.
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PMID:Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation. 2092 27