Agenesis of the corpus callosum. Clinical-radiological discordance. Analysis after 15 years of experience

作     者：Lagares, A.M. Haro, A. Crespo, P. Ceballos, V. Rodríguez, R. Conejero, J.A. 

作者机构：Servicio de Medicina Física y Rehabilitación Hospital Universitario Virgen Macarena Sevilla Spain Servicio de Medicina Física y Rehabilitación Hospital la Paz Madrid Spain Servicio de Pediatría Hospital Universitario Virgen Macarena Sevilla Spain Servicio de Medicina Física y Rehabilitación Hospital Universitario Puerta Del Mar Cádiz Spain Servicio de Medicina Física y Rehabilitación Hospital Fundación Alcorcón Madrid Spain 

出 版 物：《Rehabilitacion》 (Rehabilitacion)

年 卷 期：2011年第45卷第3期

页      面：208-216页

主　　题：Agenesis Corpus callosum Dysgenesis Gross Motor Function Classification System Hypoplasia Magnetic resonance imaging Manual Ability Classification System 

摘      要：Introduction: The agenesis of the corpus callosum (ACC) implies an interhemispheric disconnection due to the lack of formation of said structure in the embryo development. Prevalence: 0.3-0.5% in the general population and 2.3% on in persons with disability. It is associated to prematurity and older maternal age. The clinical variable varies greatly and can be confirmed with the MRI. Our objective has been to determine 1) the correlation between abnormalities in neuroimaging and in the clinical features and 2) to discover the factors influencing these differences. Material and methods: A retrospective study (15 years) of cases of ACC in a Children s Rehabilitation Unit. The epidemiological, clinical and imaging data collected were compared to each other and with the literature. Results: A total of 75% were women. Average age of the first and last check-up was 1.8 and 10.7 years, respectively. The main reasons of the consultations were orthopedic or neuro-motor disorders. There were no obstetric backgrounds of interest (75%). At the clinical features, we found psychomotor retardation (37%), language disturbance (31%), difficulty to walk or with manual handling (57%), axial malformations (25%). The predominant peripheral neuropathy occurred in feet and hips. The most frequently requested complementary test was an MRI. A total of 75% were associated with other brain malformations. Treatment prescribed: physiotherapy (100%), splints (75%), wheelchair (50%), speech therapy treatment and/or surgery (25%). Evolution: 87% favorable. Conclusions: 1) MRI can help the initial diagnosis and screening of associated malformations, but does not always correlate with the clinical features and cannot be used by us to gauge prognosis. 2) The ACC may be serious on the neurological, psychological and motor level, however sometimes we can expect a favorable outcome. © 2010 Elsevier España, S.L. y SERMEF. Todos los derechos reservados.