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Although jobbing neurologists are mindful of the rarer causes of cardioembolic stroke in young adults,1 rare diseases may bear none of their “textbook” hallmarks.
A woman in her late twenties suddenly became unsteady on her feet with a tendency to stagger to the left. She had a moderate frontal headache at the onset. Over the next hour she developed numbness of the whole of her lower lip, left upper lip and the left side of her face. These symptoms were accompanied by very mild weakness of the right arm, nausea, slight photophobia, oscillopsia, a quiet voice, and a need to gulp twice in order to swallow. Her only past history was of migraine equivalents without headache. There was a family history of migraine affecting her mother, and of stroke affecting her great aunt in her seventies. She had been on the progestogen-only contraceptive pill (norethisterone 350 μg daily) for three years, and was a non-smoker.
On examination, she had fine nystagmus on left lateral gaze, diminished cutaneous sensation over the left cheek, and mild left hemi-ataxia. On standing, she had pronounced truncal ataxia which instantly made her vomit. The rest of the neurological examination was normal. General examination including the skin was normal, heart sounds were pure with no added sounds, and she had a regular pulse of 60 beats/minute with a blood pressure of 120/70 mmHg.
The following blood tests were normal: urea and electrolytes, liver function, full blood count, fasting cholesterol and glucose, erythrocyte sedimentation rate, coagulation screen, complement, rheumatoid factor, extractable nuclear antigens, anti-nuclear …