[The CADASIL syndrome: a model of subcortical-cortical disconnection]. / El síndrome de CADASIL: un modelo de desconexión córtico-subcortical.

INTRODUCTION: CADASIL syndrome (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarts and Leukoencephalopathy) includes some neurological signs and symptoms (gait disturbances, epileptic seizures, pseudobulbar palsy, migraines, etc.), as well as neuropsychological dysfunctions (cognitive and executive impairment, emotional disorders and, frequently, dementia). This syndrome is a good model of white matter damage and potential disconnection syndromes. CLINICAL CASE: In this article, the neuropsychological profile of a 47 year-old woman diagnosed of CADASIL is investigated and thoroughly discussed. Results show the presence of a moderate cognitive and executive impairment, specially of memory, psychomotor abilities, executive functions and verbal fluency, but not dementia, overall suggesting the presence of a temporal-frontal-subcortical disfunction. CONCLUSION: This clinical pattern is an illuminating example of the neuropsychological consequences of the partial disconnection of prefrontal cortex from the thalamus and basal ganglia.

El síndrome de CADASIL:un modelo de desconexión córtico-subcortical / The CADASIL syndrome: a model of subcortical-cortical disconnection

Introducción. El síndrome conocido como CADASIL (arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía) da lugar a diversos signos y síntomas neurológicos (trastornos de la marcha, crisis epilépticas, parálisis pseudobulbar, migrañas, etc.), así como a disfunciones neuropsicológicas (deterioro cognitivo y ejecutivo, trastornos emocionales y, a menudo, demencia). Este síndrome es un buen modelo de afectación de la sustancia blanca cerebral y de potenciales síndromes de desconexión. Caso clínico. En el presente trabajo se estudia de manera detallada el perfil neuropsicológico de una mujer de 47 años afectada de CADASIL. Los resultados muestran un déficit cognitivo y ejecutivo moderado, que se corresponde predominantemente con una disfunción temporo-fronto-subcortical, pero no con demencia. Conclusión. Este cuadro constituye un ejemplo ilustrativo de los efectos neuropsicológicos de la desconexión parcial de la corteza prefrontal del tálamo y de los ganglios basales (AU)

[Neuropsychological implications of Crouzon syndrome: a case report]. / Implicaciones neuropsicológicas del síndrome de Crouzon: estudio de un caso.

INTRODUCTION: Crouzon syndrome (CS) has traditionally been associated with moderated mental retardation. However, very few studies have quantified in these patients the degree of this mental retardation, and even less research has been carried out to evidenciate the typical neuropsychological profile, including affective, cognitive and executive functions. CLINICAL CASE: We present a single case-study of a 16 year-old, right-handed female affected of CS. Neuropsychological functions assessed included attention, concentration, memory, visual perception, language, arithmetic processes, praxis, executive functions, reasoning and general intelligence. Deficient results have been obtained in learning and memory, attention, language, graphic praxis, comprehension of social situations and executive functions (frontal lobes). Nevertheless, the patient kept within normal limits her spatial and temporal orientation, visual perception, visual-spatial and manipulative abilities and arithmetic processes. CONCLUSIONS: Results suggest that the intellectual defect in CS is not general and uniform and that some intellectual abilities are preserved, while others are affected in different degrees. The importance of carrying out a thorough neuropsychological assessment in these cases is emphasized.