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Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome

Brainstem disconnection syndrome is a rare and severe disease resulting from a midbrain–hindbrain segmental defect. Clinical signs include a severe neurological impairment, an early death (usually during the first year of life), and pathognomonic postnatal brain imaging features. Two major hypotheses are proposed to explain the etiopathogenesis of this syndrome, namely an inborn error of morphogenesis or a vascular disruption defect.