Fits and strokes

Abstract

A 41-year-old right-handed engineer was admitted in 1998 with a 10-year history of absence seizures. The seizures were characterised by symptoms of olfactory deja vu. During the seizures witnesses reported that the patient was able to walk and undertake complex tasks. The seizures, of which the patient had no recollection, lasted for a few minutes and were followed by several hours of lethargy. They would occasionally occur following binge drinking. He had a past history of migraine with visual aura. One of the patient’s four siblings one was said to have “multiple sclerosis” but the exact nature of the diagnosis was not clear. His mother had thyroid disease and migraine and his father had diabetes but there was no other family history of note. On examination the patient had vitiligo. His BP was 120/80 mm Hg. He seemed to have brisker tendon reflexes on the left side and foot tapping was marginally diminished on the left. His abstract reasoning was mildly impaired. The remainder of the examination was normal. The following investigations were normal, negative or non-diagnostic: full blood count, liver function, thyroid function, ESR (8 mm/h), syphilis serology, blood lactate, amino acid profile, vitamin B12, folate, lupus anticoagulant, proteins C & S, activated protein C resistance, antibody to thrombin III, autoantibody screen, angiotensin converting enzyme concentrations in serum and cerebrospinal fluid (CSF), visual, brainstem and somatosensory evoked potentials, magnetic resonance imaging (MRI) of the neck vessels, and cardiac echocardiography. An electroencephalogram showed only mild non-specific left temporal disturbances of cerebral activity. CSF examination showed an opening pressure of 16·5 cm of water, glucose 4 mmol/L (peripheral 7 mmol/L), protein 0·96 g/L, lymphocytes 2 10/L, red cells 1 10/L, normal CSF lactate, and no oligoclonal bands. MRI of his head (figure) showed multiple areas of high signal in the white matter bilaterally and one in the pons posteriorly. These areas were confluent periventricularly. 4 months later the patient was readmitted following a sudden onset of unsteadiness of gait, diplopia, nausea, and vertigo. Over the next 48 h he developed slurred speech. On examination he had ataxia with multi-directional and rotatory nystagmus. There was marked cerebellar incoordination in the left arm. A repeat Fits and strokes