[Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A activity]. / Manifestaciones oftalmológicas en la enfermedad de Fabry. A propósito de 4 casos con actividad deficiente de a-galactosidasa A.

CASE REPORT: Fabry's disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view. DISCUSSION: Fabry's disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry's disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients.

Manifestaciones oftalmológicas en la enfermedad de Fabry. A propósito de 4 casos con actividad deficiente de alfa-galactosidasa A / Ophthalmological manifestations in Fabry´s disease. Four clinical cases showing deficient alpha-galactosidase-A activity

Caso clínico: La enfermedad de Fabry es una enfermedad producida por una alteración en el catabolismo de los glucoesfingolípidos. Se muestran las alteraciones oftalmológicas de cuatro pacientes detectados tras evaluar desde el punto de vista analítico, cardiológico y genético a 113 enfermos. Discusión: La enfermedad de Fabry es una enfermedad infrecuente con afectación oftalmológica inconstante existiendo enfermos con Fabry sin afectación ocular y portadores sanos, con importantes alteraciones oculares. El depósito de glucoesfingolípidos produce afectación a nivel corneal, cristaliniano, vascular y retiniano. Las alteraciones vasculares afectan no sólo a las venas sino también a las arterias como mostramos en nuestros pacientes

Case report: Fabrys disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view. Discussion: Fabry’s disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry’s disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients (Arch Soc Esp Oftalmol 2008; 83: 713-718)

[Susac syndrome as a cause of sensorineural hearing loss]. / Síndrome de Susac como causa de hipoacusia neurosensorial.

Susac's syndrome is an extremely rare clinical manifestation characterized by the triad of fluctuating sensorineural hearing loss, sudden visual loss and encephalopathy. Probably underdiagnosed, it affects young women who start the clinical history with headache, visual and hearing disturbances, with neurological findings in MRI. With unknown aetiology, pathogenesis is based on arteriolar microinfarcts in retina, cochlea, and grey and white matter in the brain. Treatment is, as stated in the bibliography and our experience, intravenous high doses of steroids followed by oral steroids together with hyperbaric oxygen to minimize ischaemic lesions. Aspirin associate to nimodipine has been useful to date in the treatment of our patient. We present a case and review the existing literature.

Síndrome de Susac como causa de hipoacusia neurosensorial / Susac's syndrome as a cause of sensorineural hearing loss

El síndrome de Susac es un cuadro extremadamente raro caracterizado por la tríada de hipoacusia neurosensorial fluctuante, pérdida visual repentina y encefalopatía. Probablemente infradiagnosticado, afecta a mujeres jóvenes que inician el cuadro con migrañas, alteraciones visuales y auditivas, con hallazgos neurológicos característicos en la RNM. Con una etiología desconocida, la patogenia se basa en microinfartos arteriolares en la retina, cóclea, sustancia gris y blanca del SNC. El tratamiento es, por lo recogido en la bibliografía y nuestra experiencia, esteroides a altas dosis intravenosos seguidos de esteroides orales como primera elección asociado a oxígeno hiperbárico para minimizar las lesiones isquémicas. La aspirina asociada a nimodipino ha resultado eficaz, hasta la fecha, en el tratamiento de nuestra paciente. Presentamos un caso y revisamos la literatura existente (AU)

Susac's syndrome is an extremely rare clinical manifestation characterized by the triad of fluctuating sensorineural hearing loss, sudden visual loss and encephalopathy. Probably underdiagnosed, it affects young women who start the clinical history with headache, visual and hearing disturbances, with neurological findings in MRI. With unknown aetiology, pathogenesis is based on arteriolar microinfarcts in retina, cochlea, and grey and white matter in the brain. Treatment is, as stated in the bibliography and our experience, intravenous high doses of steroids followed by oral steroids together with hyperbaric oxygen to minimize ischaemic lesions. Aspirin associate to nimodipine has been useful to date in the treatment of our patient. We present a case and review the existing literature (AU)