1/95. An overlap syndrome with features of atypical cogan syndrome and Wegener's granulomatosis.A 48 year old women developed serous otitis, scleritis, myalgia, vertigo, polyneuropathy, crescentic glomerulonephritis, general cerebral dysrythmia, hilar adenopathy, and retroorbital granulomatous inflammation. Pulmonary manifestations were absent and antibodies against neutrophilic cytoplasmic antigens (ANCA) could not be detected. The clinical picture was classified as an overlap syndrome with features of both atypical cogan syndrome and Wegener's granulomatosis. The patient responded to treatment with high dose corticosteroids and pulse cyclophosphamide.- - - - - - - - - - ranking = 1keywords = glomerulonephritis (Clic here for more details about this article) |
2/95. McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.Molecular genetics recently uncovered the mystery of the protean picture of McCune-Albright syndrome by identification of the somatic gain of function mutations in the GNAS1 gene. Here we present an adult patient with fibrous dysplasia and an endocrinopathy resulting in unusual giant height. The clinical diagnosis in the patient could be confirmed by molecular investigations in tissues involved in the process of fibrous dysplasia.- - - - - - - - - - ranking = 9.614306443284keywords = bright (Clic here for more details about this article) |
3/95. Crescentic glomerulonephritis in hyper IgD syndrome.The hyperimmunoglobulinemia D syndrome (HIDS) is a well-defined entity resembling familial mediterranean fever. HIDS is a systemic inflammatory disease associated with stimulation of T-cell-mediated immunity. These patients are at low risk for amyloidosis and are not known to develop nephropathy. We report a boy of Mediterranean ancestry who exhibited typical HIDS and end-stage renal failure. kidney biopsy revealed pauci-immune crescentic glomerulonephritis (cGN). We hypothesized that the glomerular involvement was secondary to the cytokine network activation observed in HIDS. Thus, cGN should be considered as part of the syndrome, and kidney biopsy should be performed early in the course of the renal disease in patients with HIDS.- - - - - - - - - - ranking = 5keywords = glomerulonephritis (Clic here for more details about this article) |
4/95. Fibrous dysplasia with intramuscular myxoma (Mazabraud's syndrome). Report of a case and review of the literature.About 30 cases of fibrous dysplasia associated with one or more myxomas (Mazabraud's syndrome) have been reported since 1926. We report a new case in a woman with polyostotic fibrous dysplasia and a myxoma in the left femoral muscle. She also had a history of precocious sexual development and cafe au lait spots, two manifestations whose association with polyostotic fibrous dysplasia defines McCune-Albright syndrome.- - - - - - - - - - ranking = 1.9228612886568keywords = bright (Clic here for more details about this article) |
5/95. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.McCune-Albright syndrome consists of fibrous dysplasia of bone, cafe-au-lait skin pigmentation, and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities occur in a minority of patients, and of these, Cushing's syndrome is the least often recognized. We present 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing's syndrome in the infantile period (<6 months). In 2 children spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls have experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. Understanding of the underlying defect causing McCune-Albright syndrome emphasizes the importance of searching for other endocrine dysfunction in these children.- - - - - - - - - - ranking = 13.460029020598keywords = bright (Clic here for more details about this article) |
6/95. IgA nephropathy and Reiter's syndrome. Report of two cases and review of the literature.immunoglobulin a (IgA) nephropathy is the commonest type of primary glomerulonephritis worldwide. It has previously been reported in association with the seronegative spondyloarthropathies (ankylosing spondylitis, Behcet's syndrome, psoriatic arthritis, Reiter's syndrome and the postenteritic arthritides). Since this condition was first described in 1968, 5 previous case reports of biopsy-proven IgA nephropathy associated with Reiter's syndrome have been published in the English-language literature. Here we report 2 more such cases, along with a review of the literature describing the association of IgA nephropathy and a number of other immune-complex-mediated glomerulonephritides with the seronegative spondyloarthropathies.- - - - - - - - - - ranking = 1keywords = glomerulonephritis (Clic here for more details about this article) |
7/95. Hypocomplementemic urticarial vasculitis: report of a pediatric case.Hypocomplementemic urticarial vasculitis syndrome (HUVS) is well described in adults but is quite rare in children. We report a pediatric case of HUVS initially diagnosed as juvenile rheumatoid arthritis and then as Henoch-Schonlein purpura. Beginning at 3 years of age, our patient developed polyarthritis with hypocomplementemia. She subsequently experienced an intermittent purpuric rash beginning at age 4 years, and she continued to have episodic arthritis and rash for years. hematuria and proteinuria were noted at 12 years of age; renal biopsy revealed membranoproliferative glomerulonephritis with membranous features. serum complement evaluation revealed activation of the classical pathway, consistent with HUVS. Therapy with oral dapsone led to improvement in proteinuria. HUVS should be considered in the differential diagnosis of pediatric patients with glomerulonephritis, urticarial rash, arthritis/arthralgias, and obstructive pulmonary disease.- - - - - - - - - - ranking = 2keywords = glomerulonephritis (Clic here for more details about this article) |
8/95. Eyelid fluttering accompanying diffuse epileptic EEG induced by eye closure.A 13-year-old male exhibited the following clinical and electroencephalographic (EEG) manifestations. He exhibited marked photosensitivity on EEG from the first visit at 9 years of age until 11 years of age and had an episode of television epilepsy at 9 years of age. Generalized epileptic EEG findings followed by marked eyelid fluttering, induced by eye closure in a bright room that lasted until the eyes were opened, but not by eye closure in a dark room, were first noticed at 11 years of age. A generalized epileptiform EEG was not induced when the light was turned off if the eyes were kept open. His photosensitivity disappeared by 12 years of age, but the eyelid fluttering with epileptic EEG induced by eye closure was still present at 13 years of age. The epileptic EEG was thought to be induced by a modification of the retinal input on eye closure, not by mechanical or sensory stimulation on eye closure or fixation-off sensitivity. In addition, in this patient a change from photosensitive to eye closure-sensitive epilepsy seemed to occur, which suggests that the correlation between the epileptic EEG and retinal input are complex.- - - - - - - - - - ranking = 1.9228612886568keywords = bright (Clic here for more details about this article) |
9/95. aortitis syndrome associated with positive perinuclear antineutrophil cytoplasmic antibody: report of three cases.We recently experienced three cases of aortitis syndrome that were associated with perinuclear antineutrophil cytoplasmic antibody (ANCA). In the three cases, roentgenographic examination revealed the typical appearance of stenosis or occlusive subclavian arteries. In addition, two cases showed a thickened thoracic aorta wall and the remaining case had irregular stenosis of both common iliac arteries. All three cases had persistently increased ESR and CRP over the years. These findings suggested the diagnosis of aortitis syndrome. ANCA tests were performed because of rapidly progressive glomerulonephritis symptoms in two patients and marked excretion of beta(2)-microglobulin in urine in one patient. The test showed P-ANCA in all three patients, with two patients identified as anti-MPO antibody and the third patient as non-MPO antibody. The implication of ANCA in the pathogenesis of aortitis syndrome is presumed to be: ANCA, which plays an important role in the pathogenesis of small vessel vasculitis, induces vasculitis of the vasa vasorum in the aorta or main branches (or both) and this pathologic process results in the pathogenesis of aortitis syndrome.- - - - - - - - - - ranking = 1keywords = glomerulonephritis (Clic here for more details about this article) |
10/95. Reversible bilateral internuclear ophthalmoplegia following head injury.PURPOSE: Internuclear ophthalmoplegia is a syndrome produced by a lesion in the medial longitudinal fasciculus. head trauma is a rare cause. We describe an unusual case of bilateral internuclear ophthalmoplegia as an isolated sequela following a minor head injury that resolved completely 3 months later. methods: Case report. Magnetic resonance images. RESULTS: A 34-year-old male developed typical bilateral internuclear ophthalmoplegia after closed head injury. Attempted convergence was normal. magnetic resonance imaging clearly delineated the focal hemorrhage in the medial longitudinal fasciculus region by showing a small bright lesion in the pontomesencephalic junction in the midline on both T2-weighted and T1-weighted images. The diplopia resolved 4 weeks later. Three months after the accident, his versions were completely normal. CONCLUSION: Isolated internuclear ophthalmoplegia should be considered in the differential diagnosis when one encounters an adduction deficit in a recently traumatized patient. Magnetic resonance images enhance the ability to correlate the clinical findings with the anatomic lesion.- - - - - - - - - - ranking = 1.9228612886568keywords = bright (Clic here for more details about this article) |
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