CACNA1A channelopathy with reversible cerebral ischaemia and vasospasm

Abstract

The autosomal dominant CACNA1A gene encompasses episodic neurological disorders likely related to calcium-channelopathy. We report on an 8-year-old boy with a pathogenic heterozygous CACNA1A mutation (c.4067C>T) who developed seizures, encephalopathy, and left hemiplegia. Brain magnetic resonance imaging showed restricted diffusion in the right parieto-temporo-occipital lobes with concomitant narrowing of the proximal segments of the right middle cerebral artery. Flow velocities were elevated on transcranial doppler evaluation, confirming vasospasm as a mechanism for the stroke- like episode. Treatment with the calcium channel blocker verapamil resulted in normalisation of TCD flow velocities as well as ischaemic changes on brain magnetic resonance imaging. Our patient is the youngest reported paediatric patient to benefit from the utilisation of serial TCD studies in the detection and management of cerebral vasospasm within the reported CACNA1A population.