Early and Progressive Cognitive Disorder Imposes CADASIL Syndrome in the Diagnostic Assumption

Abstract

The case presented is a diagnostic challenge considering the family and medical history of the 65-year-old patient with a family history of migraine depression, emotional lability, and gait disorders manifested at his grandmother, his mother, and his sister. After multiple hospitalizations for the described symptoms and multiple treatments with questionable results, the diagnosis was imposed by the appearance described by brain MRI to which were added the data from the patient's family and personal history. Of course, a full confirmation of the diagnosis would have required skin biopsies and genetic testing that the patient refused to perform. However, due to its peculiarities, the presented case tries to offer a diagnostic orientation path for practitioners in situations where previous diagnoses and treatments are not sufficiently conclusive either due to the impossibility of performing specific tests at that time or either because of the patient's indifference to his state of health.