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Porto Moniz, Portugal

Patricio M.S.,Hospital de Egas Moniz
BMJ case reports | Year: 2013

Intraocular tuberculosis (TB) infection can have different clinical manifestations including retinal vasculitis. It more frequently involves the veins and is associated with retina haemorrhages and neovascularisation. The diagnosis may be difficult and presumptive being based on clinical findings and evidence of systemic TB infection. The authors present a case of a 61-year-old woman with blurred vision and floaters in her left eye for 6 years, associated with recurrent vitreous haemorrahages. A temporal branch retinal vein occlusion was presumed. Four years later her right eye was also involved. Her best-corrected visual acuity (BCVA) was 20/50 in both eyes. Fundoscopic examination showed bilateral venous occlusion with vascular staining on fluorescein angiography suggestive of vasculitis secondary to Eales Disease (ED). The interferon gamma release assay (IGRA-QuantiFERON-TB Gold) was positive and antituberculosis treatment (ATT) was started. Her final BCVA was 20/20 bilaterally, without recurrences over a follow-up of 15 months. The use of ATT is likely to reduce recurrent vitreous haemorrhages and eliminate future recurrences. Source

Marques A.,Hospital de Egas Moniz
BMJ case reports | Year: 2014

The only proven therapy for glaucoma is intraocular pressure (IOP) reduction, which can be accomplished by different means. Each should be properly discussed with patients in order to best preserve visual function and quality of life. We report a case of unilateral pseudoexfoliative glaucoma, treated for years with triple topical IOP-lowering drugs. The patient presented with advanced optic neuropathy and important ocular side effects secondary to the treatment. Having discussed his options and prognosis, laser trabeculoplasty was performed while maintaining the remaining therapy considering the advanced stage of glaucoma. His IOP was effectively reduced and no progression was noted after 1-year follow-up. Although medical therapy is the mainstream in glaucoma management, its side effects should not be ignored, especially in unilateral cases. Surgery might have been a better solution, but we chose to perform laser trabeculoplasty, an effective and safer alternative, considering the unlikely but serious risk of the "wipe-out phenomenon" in this case. 2014 BMJ Publishing Group Ltd. Source

Seixas A.I.,University of Porto | Vale J.,Hospital de Egas Moniz | Alonso I.,University of Porto | Pinto-Basto J.,University of Porto | And 4 more authors.
Behavioral and Brain Functions | Year: 2011

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assessed CGG repeat size in males with disease onset after the age of 50 and negative or unknown family history for late-onset movement disorders, who were sent for SCA, HD, or PD genetic testing at a reference laboratory. The selected patients had a primary clinical diagnosis based on one of the following cardinal features of FXTAS: ataxia, tremor, or cognitive decline. A total of 86 subjects were genotyped for the CGG repeat in the FMR1 gene. We detected one patient with an expansion in the premutation range. The frequency of FMR1 premutations was 1.9% (1/54) in our group of patients with ataxia as the primary clinical feature, and 1.2% (1/86) in the larger movement disorders group. In the family of the FXTAS case, premutation-transmitting females presented a history of psychiatric symptoms, suggesting that, given the wide phenotypical expression of the premutation in females, neuropsychiatric surveillance is necessary. In conclusion, genetic testing for FXTAS should be made available to patients with adult-onset movement disorders to enable adequate genetic counseling to family members.© 2011 Seixas et al; licensee BioMed Central Ltd. Source

Bugalho P.,Hospital de Egas Moniz | Bugalho P.,New University of Lisbon | Viana-Baptista M.,Hospital de Egas Moniz | Viana-Baptista M.,New University of Lisbon
Parkinson's Disease | Year: 2013

Our objectives were to perform a longitudinal assessment of mental status in early stage Parkinson's disease (PD) patients, with brief neuropsychological tests, in order to find predictive factors for cognitive decline. Sixty-one, early stage, and nondemented patients were assessed twice, over a 2-year interval, with a global cognitive test (mini-mental state examination (MMSE)) and a frontal function test (frontal assessment battery (FAB)) and motor function scales. Dementia and hallucinations were diagnosed according to the DSM-IV criteria. Cognitive function scores did not decrease significantly, except for FAB lexical fluency score. Four patients presented with dementia at followup. The MMSE score below cut-off, worse gait dysfunction, the nontremor motor subtype, and hallucinations were significantly related to dementia. Rigidity and speech dysfunction were related to dementia and a decrease in FAB scores. We can conclude that decline in the MMSE and FAB scores is small and heterogeneous in the early stages of PD. Scores below cut-off in the MMSE could be helpful to predict dementia. Nontremor motor deficits could be predictive factors for frontal cognitive decline and dementia. © 2013 Paulo Bugalho and Miguel Viana-Baptista. Source

Marques A.,Hospital de Egas Moniz | Rodrigues A.,Hospital de Egas Moniz | Belo S.,New University of Lisbon | Guedes M.E.,Hospital Egas Moniz
BMJ Case Reports | Year: 2014

Most panuveitis in children are caused by infectious agents. A detailed clinical history and clinical examination are helpful in the diagnosis, but specific techniques are sometimes required to identify the causing specimen. We report the first published case of panuveitis in a child caused by simultaneous ocular infection by Toxocara canis and a fly larva and the innovative use of immunodiffusion technique in the vitreous for the diagnosis. Copyright 2014 BMJ Publishing Group. All rights reserved. Source

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