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[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)--three case

Jasna Zidverc-Trajković, Vesna Lacković, Aleksandra Pavlović

    Srpski Arhiv Za Celokupno Lekarstvo
    |August 30, 2008
    PubMed

    Insights

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is often underdiagnosed. Genetic and pathologic analysis are crucial for confirming CADASIL, a hereditary microangiopathy causing strokes and dementia.

    Area of Science:

    • Neurology
    • Genetics
    • Pathology

    Background:

    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy.
    • It leads to recurrent strokes and vascular dementia in young and middle-aged individuals.
    • Diagnosis relies on clinical presentation, MRI, and confirmation via biopsy and genetic analysis of Notch3 gene mutations.

    Observation:

    • Presents three patients from two Serbian families with suspected CADASIL.
    • The first patient exhibited typical CADASIL symptoms including migraine, stroke, and dementia, confirmed pathologically.
    • The second patient's stroke was initially attributed to vascular risk factors, but a sibling's similar presentation led to CADASIL diagnosis.

    Findings:

    • Confirms CADASIL diagnosis through pathological examination in three patients.
    • Highlights the underdiagnosis of CADASIL globally.
    • Demonstrates the importance of genetic and pathological confirmation beyond clinical and imaging criteria.

    Implications:

    • Suggests CADASIL is more prevalent than previously thought.
    • Emphasizes the need for increased awareness and diagnostic vigilance for CADASIL.
    • Underscores the critical role of definitive pathological and genetic testing in diagnosing CADASIL.
    Abstract

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