Medico-Legal Analysis of a CADASIL Case in the Context of Alleged Medical Malpractice

Abstract

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disorder associated with mutations in the NOTCH3 gene. It is characterized by recurrent ischemic events and progressive cognitive decline, and its clinical course may give rise to medico-legal disputes when acute neurological outcomes occur.

Objective: To analyze, from a medico-legal perspective, a case involving alleged medical malpractice in a patient subsequently diagnosed with CADASIL.

Methods: A comprehensive review of the medical record was conducted, including personal and family history, neuroimaging studies, genetic testing, and specialist consultation. The aim was to assess the diagnostic and therapeutic appropriateness of the initial medical care and to determine the presence or absence of professional liability. Results: Clinical, radiological, and genetic findings confirmed the diagnosis of CADASIL. The medico-legal assessment determined that the management provided at the initial consultation was consistent with the presenting symptoms and aligned with accepted standards of medical practice. The observed neurological sequelae were attributed to the natural progression of the underlying disease rather than to negligent conduct.

Conclusions: This case highlights the diagnostic complexity of hereditary cerebrovascular disorders and underscores the importance of rigorous, evidence-based medico-legal evaluation to distinguish disease-related complications from potential medical malpractice.