[CADASIL: Case report and literature review].

Area of Science:

• Genetics and Neurology
• Rare hereditary diseases

Context:

• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder.
• Characterized by recurrent TIAs, strokes, vascular dementia, migraine with aura, and psychiatric disturbances.

Purpose:

• To describe the psychiatric approach to a patient with anxiety, depression, and a family history of CADASIL.
• To highlight the importance of considering CADASIL in patients with mental illness and suggestive family history.

Summary:

• CADASIL, caused by Notch3 gene mutations, often presents with psychiatric symptoms, leading to misdiagnosis.
• Early recognition of CADASIL is vital, as psychiatric disturbances frequently co-occur with this condition.

Impact:

• Emphasizes the need for considering CADASIL in individuals with unexplained mental illness and a family history.
• Aims to improve diagnostic accuracy and patient outcomes for this rare neurological disorder.