Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome

Area of Science:

• Neurology
• Genetics
• Radiology

Background:

• CHARGE syndrome is a complex genetic disorder with evolving diagnostic criteria.
• Additional anomalies can aid in early diagnosis, particularly in incomplete or atypical cases.
• The persistent trigeminal artery (PTA) is a rare vascular anomaly with a low prevalence in the general population.

Purpose of the Study:

• To investigate the prevalence of the persistent trigeminal artery in patients diagnosed with CHARGE syndrome.
• To determine if PTA can serve as a diagnostic aid for CHARGE syndrome.

Main Methods:

• A retrospective review of MR imaging, clinical records, and genetic results was conducted.
• Twenty-five patients diagnosed with CHARGE syndrome between 2006 and 2019 were included.
• The prevalence of PTA was recorded and compared with established CHARGE syndrome diagnostic criteria.

Main Results:

• The persistent trigeminal artery was identified in 14 out of 25 (56%) patients with CHARGE syndrome.
• PTA was observed more frequently than 4 out of 9 other established diagnostic criteria in the cohort.
• Even when other major or minor criteria were absent, PTA was still present in 52%-67% of these patients.

Conclusions:

• The 56% prevalence of PTA in CHARGE syndrome is significantly higher than in the general population and some other diagnostic criteria.
• The persistent trigeminal artery is a valuable addition to the expanding phenotype of CHARGE syndrome.
• Radiologists should be aware of PTA as a potential diagnostic marker for CHARGE syndrome on MR imaging.