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3.
Am J Med Genet A ; 129A(3): 303-7, 2004 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-15326633

RESUMEN

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.


Asunto(s)
Anomalías Múltiples/patología , Tronco Encefálico/patología , Glaucoma/patología , Enfermedades Neurodegenerativas/patología , Atrofia , Tronco Encefálico/diagnóstico por imagen , Resultado Fatal , Femenino , Humanos , Lactante , Masculino , Tomografía Computarizada por Rayos X
6.
Eur J Ophthalmol ; 11(2): 180-2, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11456022

RESUMEN

PURPOSE: To report a case of necrotising fasciitis which was managed successfully with timely intervention. CASE REPORT: A 77-year-old lady diagnosed as having narcotizing fasciitis of the orbit based on the clinical picture and microbiology report is presented. Early recognition of the condition followed by timely surgical intervention in the form of surgical debridement and subsequent exenteration led to a favorable prognosis. DISCUSSION: Necrotising fasciitis is a fulminant synergistic infection. It spreads along facial planes causing necrosis of the overlying skin. Management of this condition includes both medical treatment and surgical debridement. Early intervention is of vital importance to save the patient's life as septicemia often leads to death within 24-96 hours. CONCLUSIONS: Early recognition and treatment are the key to successful management of cases with necrotising fasciitis of the orbit.


Asunto(s)
Infecciones Bacterianas del Ojo/diagnóstico , Fascitis Necrotizante/diagnóstico , Enfermedades Orbitales/diagnóstico , Infecciones Estafilocócicas/diagnóstico , Infecciones Estreptocócicas/diagnóstico , Anciano , Desbridamiento , Enucleación del Ojo , Infecciones Bacterianas del Ojo/microbiología , Infecciones Bacterianas del Ojo/terapia , Fascitis Necrotizante/microbiología , Fascitis Necrotizante/terapia , Femenino , Humanos , Enfermedades Orbitales/microbiología , Enfermedades Orbitales/terapia , Infecciones Estafilocócicas/microbiología , Infecciones Estafilocócicas/terapia , Staphylococcus aureus/aislamiento & purificación , Infecciones Estreptocócicas/microbiología , Infecciones Estreptocócicas/terapia , Streptococcus/aislamiento & purificación
10.
Br J Ophthalmol ; 70(6): 469-70, 1986 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-3718912

RESUMEN

A patient is presented who had unrecognised Wilson's disease. He had developed a clinically obvious Kayser-Fleischer ring in only one eye. The eye without the corneal ring had been injured in childhood and had a low intraocular pressure. Possible mechanisms for formation of a Kayser-Fleischer ring are reviewed and the lack of Kayser-Fleischer ring in this case is discussed.


Asunto(s)
Córnea/patología , Degeneración Hepatolenticular/patología , Humanos , Presión Intraocular , Masculino , Persona de Mediana Edad , Pigmentación
20.
Pathol Vet ; 4(1): 89-91, 1967.
Artículo en Inglés | MEDLINE | ID: mdl-5340046
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