1/26. Optic disc edema in neonatal onset multisystem inflammatory disease (NOMID).PURPOSE: To inform ophthalmologists about neonatal onset multisystem inflammatory disease (NOMID), a rare condition with ophthalmologic manifestations. methods: We report a single case of NOMID with optic disc edema. RESULTS: A 28-month-old child with neonatal rash, arthropathy, central nervous system (CNS) involvement, and optic disc edema was diagnosed with NOMID. CONCLUSIONS: The finding of posterior uveitis or optic disc edema in a child with juvenile onset arthritis may allow the differentiation of NOMID from juvenile rheumatoid arthritis.- - - - - - - - - - ranking = 1keywords = onset multisystem inflammatory disease, multisystem inflammatory disease, neonatal onset multisystem inflammatory disease, onset multisystem, neonatal onset multisystem, neonatal onset, inflammatory disease, multisystem (Clic here for more details about this article) |
2/26. Ophthalmic manifestations of neonatal onset multisystem inflammatory disease.PURPOSE: To report the ophthalmic manifestations of neonatal onset multisystem inflammatory disease, a recently recognized, rare systemic disorder characterized by the triad of arthropathy, rash, and abnormal central nervous system development. METHOD: Case report. RESULTS: A 2-year-old female with neonatal onset multisystem inflammatory disease presented with visual acuity of fix and follow with each eye, bilateral optic nerve head pallor and gliosis, as well as marked sheathing of the peripapillary vessels. No vitreous inflammation or macular edema was found. visual acuity was stable from the neonatal period through the 3 months of follow-up after the changes involving the optic nerve heads and peripapillary vessels were observed (a total of 33 months). CONCLUSIONS: This report provides a description of the ocular manifestations of neonatal onset multisystem inflammatory disease and supports earlier suggestions that swelling of the optic nerve heads can occur. In this case, optic nerve head pallor may have been a sequela of such swelling. The pathogenesis of neonatal onset multisystem inflammatory disease is unknown.- - - - - - - - - - ranking = 1.6keywords = onset multisystem inflammatory disease, multisystem inflammatory disease, neonatal onset multisystem inflammatory disease, onset multisystem, neonatal onset multisystem, neonatal onset, inflammatory disease, multisystem (Clic here for more details about this article) |
3/26. Long-term complications in Hunter's syndrome.This report describes the clinical and investigative findings in a 31-year-old man with Hunter's syndrome, showing evidence of severe multisystem involvement. Papilloedema has been present for at least 8 years with no evidence of progressive visual impairment. His most serious and life-threatening complications are laryngeal oedema and tracheal narrowing, which both compromise his respiratory function and constitute a major anaesthetic risk.- - - - - - - - - - ranking = 3.0242627836572E-5keywords = multisystem (Clic here for more details about this article) |
4/26. The supratrochlear lymph nodes: their diagnostic significance in a swollen elbow joint.In the differential diagnosis of a swollen elbow, the palpation of the supratrochlear glands is useful. They are not enlarged in a traumatic elbow joint. They are enlarged, discrete and shotty in rheumatoid arthritis. In tuberculosis, they are enlarged, matted and they may caseate and form a cold abscess on the medial aspect of the supratrochlear region of the arm.- - - - - - - - - - ranking = 5.3618714706834E-7keywords = cold (Clic here for more details about this article) |
5/26. Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.Chronic, Infantile, Neurological, Cutaneous and Articular syndrome (CINCA) or Neonatal/Infantile Onset Multisystem Inflammatory disease (NOMID/IOMID) is a rare, multisystem inflammatory disease characterised by neonatal onset of urticarial symptoms, persistent rash, ocular inflammatory lesions, progressive articular and neurological involvement and associated with characteristic overgrowth of the ossification nucleus of the patella. The tissues involved are extensively infiltrated by inflammatory cells, mostly neutrophils. This paper describes the clinical features of three new cases as well as a study of activation markers in neutrophils and search for mutations of the CIAS1gene in these patients. Clinical records of three cases of CINCA are reported. For genetic analysis, exon 3 of the CIAS1gene was amplified and sequenced. Immunophenotype, oxidative burst and phagocytosis were analysed in neutrophils obtained from all the three CINCA patients as well as from eight juvenile idiopathic arthritis (JIA) patients and eight healthy controls. Functional assays in neutrophils were normal in all three patients with CINCA syndrome and did not differ from those of JIA patients and healthy controls. The surface density of CD10 was significantly higher on neutrophils from CINCA patients as compared to those of JIA and controls (P<0.0005). In one subject a new missense mutation in the CIAS1gene was identified. CONCLUSION: the hyper expression of the activation antigen CD10/NEP in neutrophils from these three cases of CINCA, as compared to JIA patients and healthy controls, irrespective of the presence of mutations in CIAS1, could be a marker of the inflammatory disorder typical of some patients with CINCA syndrome.- - - - - - - - - - ranking = 0.049450853441711keywords = multisystem inflammatory disease, articular syndrome, neonatal onset, inflammatory disease, multisystem (Clic here for more details about this article) |
6/26. sarcoidosis in a preschooler with only skin and joint involvement.sarcoidosis is a multisystemic granulomatous disease of unknown etiology. It is relatively rare in children less than 15 years of age and especially in those less than 5-6 years of age. sarcoidosis characteristically involves the skin, eyes, and synovial tissues in patients less than 5-6 years of age. We report a 3-year-old boy with sarcoidosis who had cutaneous findings with joint symptoms. Dermatologic examination revealed lichenoid, erythematous, 2-3 mm papules, some of them grouped, all over his extremities and trunk. There were symmetric swellings on his ankles and wrists without erythema or pain which did not interfere with function. However, until now, no eye involvement had been detected in the patient.- - - - - - - - - - ranking = 3.0242627836572E-5keywords = multisystem (Clic here for more details about this article) |
7/26. Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome.Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare disorder of unknown aetiology with neonatal onset, characterized by severe arthropathy, persistent skin rash and central nervous system disease. Joint involvement may vary from minimal swelling to destructive arthritis, with inability to stand or walk. The most striking findings of CINCA syndrome are cartilage anomalies with epiphyseal modifications and abnormal ossification, for which a pathogenetic role of tumour necrosis factor-alpha (TNF-alpha) is postulated. We describe a 4-year-old child affected with CINCA syndrome and presenting progressive joint disease, in whom non-steroidal anti-inflammatory drugs (NSAID) and systemic corticosteroidal therapy had been ineffective. Etanercept, anti-TNF-alpha therapy, was administered over a 6-month-period resulting in a dramatic improvement of the arthropathy. This good response to anti-cytokine treatment supports our hypothesis that TNF-alpha might play an important role in the pathogenesis of CINCA syndrome, which needs to be evaluated and confirmed in further studies.- - - - - - - - - - ranking = 0.00036103972068393keywords = neonatal onset (Clic here for more details about this article) |
8/26. Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome.Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a severe inflammatory disease that recently was associated with mutations in CIAS1. It was hypothesized that these mutations may lead to enhanced inflammatory responses. Herein, we provide evidence that inflammation in the CINCA syndrome is characterized by enhanced interleukin-1beta (IL-1beta) and IL-18 release upon stimulation of blood cells and show that this release is caspase 1 dependent.- - - - - - - - - - ranking = 0.0060631254484694keywords = articular syndrome, inflammatory disease (Clic here for more details about this article) |
9/26. A case of multicentric reticulohistiocytosis with multiple lytic skull lesions.Multicentric reticulohistiocytosis (MR) is a rare multisystemic disorder of unknown aetiology characterized by cutaneous and joint manifestations. It is associated with malignancy in up to 31% of cases. Common radiological findings are peri-articular erosions and osteolytic punched-out areas. We present a case of MR with cutaneous nodules, joint pains, and multiple lytic skull lesions--a combination that has not been described before. Osteolytic activity of proinflammatory cytokines (tumour necrosis factor-alpha and interleukin-1) may explain the peri-articular erosions often seen in MR, and the multiple lytic skull lesions seen in our patient.- - - - - - - - - - ranking = 3.0242627836572E-5keywords = multisystem (Clic here for more details about this article) |
10/26. A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents.In this report we describe a case of severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome with a novel G307V cryopyrin mutation and all of the characteristic clinical and laboratory features of this autoinflammatory disease. There was no clear response to standard therapies, including human interleukin-1 (IL-1) receptor antagonist (anakinra) and soluble tumor necrosis factor receptor (etanercept). The patient finally had a partial clinical response (reduction in fever and irritability) and complete laboratory response (improved c-reactive protein and serum amyloid A levels) to humanized anti-IL-6 receptor antibody (MRA), but died from congestive heart failure and interstitial pneumonia 2 months after initiation of therapy. We serially measured the serum cytokine levels and expression of NF-kappaB activation in the patient's peripheral blood mononuclear cells before and during consecutive therapies. Pathologic examination of autopsy specimens was also performed. This case illustrates the continued difficulty in management of patients with CINCA syndrome and the complexity of the inflammatory pathways in this disorder.- - - - - - - - - - ranking = 0.0060631254484694keywords = articular syndrome, inflammatory disease (Clic here for more details about this article) |
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