Saldaña-Xolalpa J, Calle-Samaniego ED, Núñez OL

Language: Spanish
References: 24
Page: 69-73
PDF size: 826.07 Kb.

ABSTRACT

Introduction: CADASIL syndrome (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an autosomal-dominant hereditary arteriopathy, caused by mutation of the NOTCH3 gene. It manifests as recurrent ischemic strokes or transient ischemic attacks (TIA) and white matter lesions in neuroimaging studies. Diagnosis is confirmed by skin biopsy with the presence of osmiophilic granular deposits in the vascular walls and/or by genetic study of the NOTCH3 gene. Clinical case: we present the case of a 48-year-old woman with a history of migraine with aura since she was 12 years old; she presented ischemic stroke at 45 and 46 years old and cognitive impairment at 47 years. In brain magnetic resonance imaging (MRI) white matter lesions were observed and genetic study showed NOTCH3 gene mutation, confirming the diagnosis of CADASIL. Conclusion: in patients with clinical and imaging manifestations of CADASIL, a genetic study or skin biopsy should be performed to confirm the diagnosis.

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