Variable presentation of cerebrovascular disease in monovular twins

We describe twin girls with bilateral cerebrovascular disease. In one child, a diagnosis of moyamoya disease was made after presentation in infancy with an acute hemiparesis; her asymptomatic sibling was found to have significant bilateral cerebrovascular disease after neuropsychological evaluation and assessment with transcranial Doppler ultrasound. Both subjects showed a discrepancy between verbal and performance IQ and deficits on a test of frontal-lobe function suggesting that these domains should be targeted in cognitive assessment. Family members of subjects with moyamoya are at risk of cerebrovascular disease. Clinical symptoms do not reliably predict disease and those at risk should be offered screening with non-invasive vascular imaging.