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2019, Number 2

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Rev Cubana Neurol Neurocir 2019; 9 (2)

Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy

Sotolongo PEM, Castillo RL, Arias MA, Falcón CV, Casas ME

Language: Spanish
References: 18
Page: 1-15
PDF size: 351.54 Kb.


ABSTRACT

Introduction: CADASIL (Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an autosomal dominant neurovascular disorder that causes ischemic subcortical stroke, migraine with aura, depression, apathy, and dementia. It have a variable prevalence (at least 2-10.7 per 100,000 adults) and is the most common cause of inherited stroke and vascular dementia in adults.
Clinical case: Female patient aged 44 with a history of migraine with aura since age 25. Also, family history of migraine, stroke, death and disability in youngsters. She arrives with clinical picture of acute encephalopathy that begins with a migraine headache accompanied by vomiting, photophobia, scotoma and later fever and hallucinations. Brain MRI shows abnormalities such as several lacunar infarcts and T2 hyperintensities involving the white matter of the left anterior temporal pole. The EEG shows slow background. Diagnosis was confirmed with detection of eosinophilic inclusions in smooth muscle cell of dermic capillary of skin biopsy (osmophilic in transmission electronic microscopy).
Conclusions: The patient showed is the first confirmed case in Cuba with CADASIL. Unfortunately, because of similarities in clinical presentation and neuroimaging, this disorder is often misdiagnosed as multiple sclerosis and treated with immunomodulatory medications that confer risk without benefit.


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