Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome

Background: Cockayne syndrome is a rare DNA repair disorder marked by premature aging, poor growth, and intellectual disability. Neurological complications such as seizures, movement disorder, and stroke have been reported. Hemiplegic migraine has not been reported in association with Cockayne syndrome. Methods: We report a male with Cockayne syndrome due to biallelic heterozygous pathogenic variants in ERCC6 who presented repeatedly with transient focal neurological deficits and headache, which were consistent with hemiplegic migraine. Two siblings also had Cockayne syndrome and presented with similar symptoms. Results: Our patient was originally diagnosed based on clinical suspicion and then confirmed by targeted exome analysis of genes associated with Cockayne syndrome. The family's research exome sequencing data were reanalyzed to identify variants in genes known to cause familial hemiplegic migraine. No variants in the genes known to cause familial hemiplegic migraine were identified. Conclusion: This is a novel association of familial hemiplegic migraine in three full siblings with Cock-ayne syndrome. Hemiplegic migraine has not previously been described as part of the Cockayne syn-drome presentation. A separate genetic cause of familial hemiplegic migraines was not identified in an exome-based analysis of genes known to cause this condition. This report may represent an expansion of the Cockayne syndrome phenotype. (c) 2022 Elsevier Inc. All rights reserved.

Automated summary

This study reported three siblings with Cockayne syndrome, among whom a male patient presented with clinical features consistent with hemiplegic migraine. His two siblings also had similar symptoms. The diagnosis of Cockayne syndrome was confirmed through targeted exome analysis, but the genetic cause of familial hemiplegic migraine was not identified. This report may expand the phenotype of Cockayne syndrome.