Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome
Jesse Jones1, Gary Duckwiler1, Satoshi Tateshima1
1Division of Neurointerventional Radiology, Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Insights
Cornelia De Lange syndrome (CDL) patients can have rare cerebrovascular variants. These rare vascular anomalies complicated the endovascular treatment of a traumatic cavernous carotid fistula (CCF) in a CDL patient.
Area of Science:
- Neurology
- Genetics
- Vascular Surgery
Background:
- Cornelia De Lange syndrome (CDL) is a rare genetic disorder.
- CDL is associated with intellectual disability, short stature, and distinctive facial features.
- Cerebrovascular anatomic variants are rarely reported in CDL.
Observation:
- A 32-year-old male with CDL presented with a traumatic direct cavernous carotid fistula (CCF).
- Cerebral angiography revealed bilateral hypoplastic external carotid arteries.
- An aberrant vessel originating from the internal carotid artery supplied the territory of the internal maxillary arteries.
Findings:
- The identified cerebrovascular variants complicated endovascular management of the CCF.
- Retrograde filling of the fistula occurred due to the anomalous vasculature.
- Successful coil embolization was performed at the fistula's origin from the internal carotid artery.
Implications:
- Awareness of CDL-associated cerebrovascular variants is crucial for interventionalists.
- Understanding CDL gene function may elucidate mechanisms of cerebral vascular development.
- This case highlights the importance of detailed pre-procedural imaging in complex CDL cases.
Background:
Cornelia De Lange (CDL) is a rare genetic syndrome characterized by short stature, intellectual disability, skeletal abnormalities, and distinctive facial features. We present a case of CDL with several rare cerebrovascular anatomic variants that impacted the treatment of a direct cavernous carotid fistula (CCF).
Case Description:
This 32-year-old male CDL patient suffered a direct, traumatic CCF on the left and presented to our institution for endovascular management. Cerebral angiography revealed several anatomic variants, including hypoplastic external carotid arteries bilaterally. The vascular territory typically supplied by the internal maxillary arteries was fed by a prominent vessel arising from the internal carotid artery (ICA) in the expected location of the vidian artery. This anatomic variant directly impacted management due to retrograde filling of the fistula, necessitating coil embolization at its origin from the left ICA.
Conclusion:
Advance knowledge of cerebrovascular variants associated with CDL may help interventionalists prepare to approach such cases. Additionally, further inquiry into the function of proteins encoded by genes associated with CDL could better our understanding of vascular development in the brain.
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