ABSTRACT
Susac syndrome is a rare disorder that is clinically characterized by encephalopathy, retinopathy and hearing loss. Most of the reported cases in the literature are adult patients, pediatric presentation is extremely rare. Here we present three pediatric patients aged between 10-15; diagnosed as Susac syndrome. They all had thalamic involvement in addition to typical callosal lesions. All of the three patients had a monophasic course and good treatment response.
Subject(s)
Brain Diseases , Hearing Loss , Susac Syndrome , Adolescent , Adult , Brain Diseases/diagnostic imaging , Child , Corpus Callosum/diagnostic imaging , Humans , Susac Syndrome/diagnostic imaging , ThalamusABSTRACT
RESUMEN El síndrome de Susac es una entidad clínica poco frecuente, posiblemente mediada por un proceso autoinmune; la tríada clásica se compone de retinopatía, disminución en la agudeza auditiva y síntomas neuropsiquiátricos (encefalopatía). Hay pocos casos descritos con sintomatología neuropsiquiátrica como la sintomatología principal. Presentamos un caso de síndrome de Susac, que corresponde a una mujer de 34 arios, con predominio de sintomatologia neuropsiquiátrica, caracterizada por un síndrome de Klüver-Bucy parcial, un síndrome apático, risa y llanto patológico y alteraciones cognitivas de predominio atencional; dichos síntomas mejoraron cualitativamente con el uso de terapia inmunológica. Este caso revela la importancia de las manifestaciones neuropsiquiátricas como presentación clínica en pacientes con entidades neurológicas.
ABSTRACT Susac syndrome is a rare clinical condition, possibly mediated by an autoimmune process; the classic triad is composed of retinopathy, decreased hearing acuity and neuropsychiatric symptoms (encephalopathy). There are few cases reported with neuropsychiatric symptoms as the main manifestation. We present a case of Susac syndrome in a 34-year-old female with a predominance of neuropsychiatric symptoms, characterised by partial Klüver-Bucy syndrome, apathy syndrome, pathological laughter and crying, and cognitive dysfunction predominantly affecting attention, which showed a qualitative improvement with the use of immunological therapy. This case report highlights the importance of neuropsychiatric manifestations as clinical presentation in patients with neurological conditions.
Subject(s)
Humans , Female , Adult , Kluver-Bucy Syndrome , Susac Syndrome , Crying/psychology , Apathy , Neuropsychiatry , Laughter/psychologyABSTRACT
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)