
Marta Garcia Lorenzo
Resident of Primary Care Medicine, SpainPresentation Title:
CADASIL disease: Family strokes
Abstract
CADASIL is a brain microangiopathy with autosomal dominant inheritance. Although its epidemiology and pathogenesis are poorly understood, it is know to be caused by a mutation of the Notch3 gene. Its clinical expression is variable, dominated by episodes of migraine with aura followed by recurrent cerebral ischemic episodes, dementia and neuropsychiatric disorders. The final diagnosis is made fundamentally with magnetic resonance imaging from the pre-symptomatic phase. The management of CADASIL is multidisciplinary.Next, we present a case of a patient who presented multiple cerebrovascular accidents, in the magnetic resonance imaging extensive white matter involvement in both cerebral hemispheres is observed and in the genetic studymutation compatible with CADASIL disease.
Biography
Marta Lorenzo García is a primary care physician at La Paz Hospital in Madrid. She is dedicated to rural healthcare and works in the Sierra of Madrid, where she applies a holistic approach to patient care. Her specialty allows her to adopt a biopsychosocial perspective, addressing not only medical aspects but also psychological and social factors in health treatment. Marta is also deeply interested in research, aiming to improve healthcare in rural settings and contribute to the development of new strategies in her field.