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Novel presentation of hemiplegic migraine in a patient with Cockayne syndrome

      Highlights

      • Novel association of hemiplegic migraines in siblings with Cockayne syndrome
      • No abnormalities identified in genes known to cause familial hemiplegic migraine
      • This association may expand the phenotype of Cockayne syndrome

      Abstract

      Background

      Cockayne Syndrome is a rare DNA repair disorder marked by premature aging, poor growth, and intellectual disability. Neurologic complications such as seizures, movement disorder, and stroke have been reported. To our knowledge, hemiplegic migraine has not been reported in association with Cockayne Syndrome.

      Case presentation

      We report a male with Cockayne syndrome due to biallelic heterozygous pathogenic variants in ERCC6 who presented repeatedly with transient focal neurologic deficits and headache, which were consistent with hemiplegic migraine. Two siblings also had Cockayne syndrome and presented with similar symptoms.

      Methods

      Our patient was originally diagnosed based on clinical suspicion, then confirmed by targeted exome analysis of genes associated with Cockayne syndrome. The family’s research exome sequencing data was 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.

      Discussion

      This is a novel association of familial hemiplegic migraine in three full siblings with Cockayne syndrome. Hemiplegic migraine has not previously been described as part of the Cockayne syndrome 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.

      Key words

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