Intracerebral haemorrhage in CADASIL

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Abstract
A 47 year old woman was admitted after a fall at home, followed by several minutes of unconsciousness. Her past medical history was uneventful. In particular, there was no history of migraine or depression, and she was not taking any drugs. On admission, her husband reported memory deficits for several weeks. Initially, the patient complained about headaches and mild dysarthria. Moderate left sided hemiataxia and pronation of the left arm were present. Blood pressure was raised to 220/120 mm Hg without a known history of arterial hypertension. Neuropsychological deficits were prominent in impaired semantic, visual-spatial, and episodic memory, and in deterioration in cognitive speed. Concentration and mathematical problem solving were also reduced, indicating severe cognitive impairment. Initial cranial computed tomography revealed a haemorrhage of 20 mm diameter in the left cerebellar hemisphere. Subsequent magnetic resonance imaging (MRI) with T2* gradient echo (GE) showed more than 25 small haemorrhages distributed over the entire brain. T2 weighted scans showed white matter lesions with periventricular emphasis (fig 1). Serum markers for vasculitis and coagulation indices were normal, as was the cerebrospinal fluid. An ophthalmological examination showed hypertensive changes. Ultrasound sonography of the extracranial and intracranial vessels revealed arteriosclerotic vessel walls but no stenosis. Electronmicroscopic examination of a skin biopsy showed granular osmiophilic material (GOM) in the basal lamina of small arterioles, establishing the diagnosis of CADASIL. Direct bidirectional sequencing of all exons coding for epidermal growth factor (EGF)-like repeat domains (exons 2 to 24) of notch3 did not reveal any mutation.

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