[CADASIL: Case report and literature review]

Kappa Katsafouros1, E Finokaliotis, E Rizos

  • 1Dromokaitio Psychiatric Hospital, Tarsi, Athens.

Insights

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder. Recognizing its psychiatric symptoms is crucial for accurate diagnosis and treatment.

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.

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