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CADASIL presenting with spontaneous intracerebral hemorrhage: report of a case and description of the first family in Northern Greece.

Hippokratia 2016 January
INTRODUCTION: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), the most common inherited cause of stroke and dementia in adults, has been described in six Greek families. Common presenting manifestations include migraine with aura, brain ischemia, mood disorders and cognitive decline. Spontaneous intracerebral hemorrhage (SICH) rarely occurs in CADASIL and only exceptionally as the first clinical manifestation.

CASE DESCRIPTION: We have previously reported the sixth Greek family with CADASIL and in particular, two brothers in whom the genetic testing documented a classic mutation of the NOTCH3 gene (Arg169Cys). In this report, we describe the 30-year-old son of the second brother, who suffered a thalamic SICH as the presenting manifestation of CADASIL, in the absence of arterial hypertension or antiplatelet drug use.

CONCLUSION: Patients with acute subcortical infarcts, leukoencephalopathy, a history of migraine, mood disorders, and dementia, should always raise the suspicion of CADASIL. However, a SICH, even in the absence of classical risk factors for hemorrhage, is possible and should not exclude the diagnosis of CADACIL. Hippokratia 2016, 20(1): 76-79.

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