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[Clinical and neuroimaging findings in a family with CADASIL associated to C475T mutation]
A P Sempere1, J Pérez-Tur, N García-Barragán
1Servicio de Neurología, Hospital Vega Baja, Orihuela, Alicante, España. aperezs@meditex.es
Insights
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) diagnosis is crucial for patients with stroke or dementia. Genetic testing for NOTCH3 mutations is essential for confirming CADASIL.
Area of Science:
- Neurology
- Genetics
- Vascular Neurology
Background:
- CADASIL is an autosomal dominant hereditary arteriopathy affecting the brain.
- It presents with headache, recurrent strokes, and cognitive decline.
Observation:
- A 62-year-old female with recurrent lacunar strokes and dementia.
- Family history of strokes and dementia.
- Neuroimaging revealed leukoencephalopathy and lacunar infarctions.
Findings:
- Skin biopsy showed no electron-dense deposits.
- Genetic analysis identified a C475T mutation in exon 4 of the NOTCH3 gene.
Implications:
- Suspect CADASIL in patients with cerebrovascular disease or dementia and characteristic MRI findings.
- Genetic study is the primary diagnostic tool for CADASIL.
- Early diagnosis facilitates appropriate management and genetic counseling.
Introduction:
The term CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) refers to an autosomal dominant hereditary arteriopathy of the brain that is characterised by headache, recurring strokes and progressive cognitive deterioration. We report the case of another family with CADASIL and emphasise the importance of a genetic study in its diagnosis.
Case Report:
A 62-year-old female patient with repeating lacunar strokes, subcortical dementia and a family history of dementia and strokes. Neuroimaging studies conducted on the patient and her siblings showed signs of leukoencephalopathy and lacunar infarctions. The ultrastructural study of the biopsy performed on a sample of the patient's skin, which included five dermal vessels, did not show any electron-dense deposits. The genetic study revealed the presence of mutation C475T in exon 4 of NOTCH3.
Conclusions:
The possible presence of CADASIL must be suspected in patients with symptoms of cerebrovascular disease or dementia who present characteristic alterations in the magnetic resonance brain scan, especially when there is a compatible family history. The first choice diagnostic procedure must be a genetic study.
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