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CADASIL Syndrome Presenting as Obsessive-Compulsive Disorder: A Case Report
1Amasya University Faculty of Medicine, Department of Psychiatry, Amasya, Türkiye.
Insights
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic small vessel disease. This case report highlights a patient with CADASIL presenting with early-onset obsessive-compulsive disorder, emphasizing the condition's diverse psychiatric manifestations.
Area of Science:
- Neurology
- Genetics
- Psychiatry
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease.
- It is caused by mutations in the Notch3 gene and presents with neurological symptoms like strokes and cognitive decline.
- Psychiatric disorders are common in CADASIL, affecting 20-41% of patients, with mood disorders being most prevalent.
Abstract:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a small vessel disease. It is an autosomal dominant inherited disease caused by a mutation in the Notch3 gene. Clinically, it usually presents with recurrent transient ischemic attacks, strokes, vascular dementia, migraine with aura, cognitive impairments and psychiatric symptoms. Cranial MRI is the most useful imaging modality to demonstrate the characteristic radiological findings of CADASIL and gene analysis is the gold standard for diagnosis. Although the clinical manifestations are mainly neurological, CADASIL can also present with psychiatric disorders. Psychiatric disorders are one of the main clinical manifestations of the disease, with a prevalence rate ranging from 20 to 41%. Among psychiatric disorders, mood disorders are the most commonly reported, and other psychiatric diagnoses include psychotic disorders, anxiety disorders, adjustment disorder, personality disorders, behavioral disorders, substance dependence and abuse. In this case report, a paitent with CADASIL presenting with obsessive-compulsive disorder at a relatively young age will be presented.
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