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1.
Arq. bras. oftalmol ; 77(3): 188-190, May-Jun/2014. graf
Article Dans Anglais | LILACS | ID: lil-723833

Résumé

We report a case of a 19-year-old woman presenting bilateral neurosensorial hearing loss, mental abnormalities, and loss of visual field in the left eye. Visual acuity was 20/20 in OD and 20/25 in OS. Patient was examined systemically. Audiometry showed sensorineural hearing loss in both ears. The magnetic resonance imaging (MRI) of brain revealed multiple small lesions in the white matter in both cerebral hemispheres and at the corpus callosum. Fundoscopy showed bilateral normal optic disc and sheathing of the arterioles in the middle periphery of OD. Retinal edema and cotton-wool spots were observed. Fluorescein angiography showed bilateral peripheral occlusive arterial vasculopathy. The patient was diagnosed with Susac syndrome and treated with quetiapine fumarate, flunitrazepam, and prednisone, which resulted in stabile outcome. This case shows that a high index of suspicion leading to early recognition and treatment is important to avoid irreversible damage.


Relatamos o caso de uma mulher de 19 anos apresentando perda auditiva neurossensorial bilateral, anormalidades mentais e perda de campo visual no olho esquerdo. A acuidade visual era 20/20 em OD e 20/25 em OE. Paciente foi sistematicamente investigada, audiometria mostrou perda auditiva neurossensorial nos dois ouvidos e ressonância magnética nuclear (RNM) cerebral mostrou múltiplas pequenas lesões na substância branca em ambos os hemisférios cerebrais e no corpo caloso. A fundoscopia mostrou disco óptico normal bilateral, e embainhamento das arteríolas na média periferia do olho direito. Edema de retina e exsudatos algodonosos foram vistos. Angiofluoresceinografia mostrou vasculopatia arterial obstrutiva periférica bilateral. A paciente foi diagnosticada com síndrome Susac e tratada com fumarato de quetiapina, flunitrazepam e prednisona resultando em estabilização do quadro. Este caso mostra que um alto índice de suspeita levando ao reconhecimento precoce e tratamento é importante para evitar o diagnóstico tardio.


Sujets)
Femelle , Humains , Jeune adulte , Surdité bilatérale partielle/anatomopathologie , Syndrome de Susac/traitement médicamenteux , Syndrome de Susac/anatomopathologie , Audiométrie , Angiographie fluorescéinique , Surdité bilatérale partielle/physiopathologie , Imagerie par résonance magnétique , Syndrome de Susac/physiopathologie , Acuité visuelle
2.
Indian J Ophthalmol ; 1992 Jan-Mar; 40(1): 24-6
Article Dans Anglais | IMSEAR | ID: sea-71120

Résumé

A 2-month-old male infant was found to have Norrie's disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie's disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.


Sujets)
Cécité/anatomopathologie , Surdité bilatérale partielle/anatomopathologie , Humains , Nourrisson , Liaison génétique , Mâle , Déficience intellectuelle , Rétinopathies/anatomopathologie , Chromosome X
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