Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies.
Marina Macchiaiolo, Alessia Carboni, Michaela Veronika Gonfiantini et al.
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Case in brief
Two pediatric patients with Cornelia de Lange Syndrome (CdLS) presented with unique cerebrovascular malformations, including a right aortic arch and an isolated common trunk for the left vertebral and subclavian arteries. Both exhibited similar clinical features and complex vascular patterns, with the left cerebral hemisphere receiving blood supply primarily from contralateral vessels. These anomalies highlight a potential genetic link to cerebrovascular development.
What made this case unusual
The cerebrovascular anomalies observed in these patients with CdLS have not been previously reported, indicating a novel association between cohesin gene variants and vascular development.
Diagnostic / clinical pearl
Clinicians should consider the possibility of cerebrovascular anomalies in pediatric patients with Cornelia de Lange Syndrome, as these may influence management and outcomes.
Why it matters
Understanding the vascular patterns associated with CdLS may provide insights into the genetic underpinnings of cerebrovascular development and inform future research on neurovascular phenotypes.