Agenesia de la supraestructura del estribo / Congenital absence of the stapes suprastructure

La ausencia de la supraestructura del estribo es una anomalía congénita muy rara, secundaria a un desarrollo aberrante del segundo arco branquial con ausencia parcial de las estructuras derivadas de él. En la mayoría de las ocasiones, su diagnóstico es casual en una timpanotomía exploradora realizada ante una hipoacusia de transmisión de origen incierto. Puede aparecer de forma aislada o asociada a otras anomalías mayores o menores. El tratamiento es quirúrgico. Realizamos una revisión de la literatura existente, a propósito de un caso de ausencia de la supraestructura del estribo aislada

Congenital absence of the stapes suprastructure is an unusual anomaly, consequence of a developmental aberration involving partial absence of a derivate from the second branchial arch. Sometimes, exploratory tympanotomy may be the only mean of diagnosis when known conductive hearing loss is seen. This anomaly can appear isolated or associated to other major or minor anomalies. The treatment is surgical. We review the literature about the absence of the isolated stapes suprastructure

[Congenital absence of the stapes suprastructure]. / Agenesia de la supraestructura del estribo.

Congenital absence of the stapes suprastructure is an unusual anomaly, consequence of a developmental aberration involving partial absence of a derivate from the second branchial arch. Sometimes, exploratory tympanotomy may be the only mean of diagnosis when known conductive hearing loss is seen. This anomaly can appear isolated or associated to other major or minor anomalies. The treatment is surgical. We review the literature about the absence of the isolated stapes suprastructure.

[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)