Coexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation

Pial arteriovenous fistulas (AVFs) are rare vascular lesions; their exact pathophysiology is largely unknown. Pial AVFs have been reported to develop within capillary malformation-arteriovenous malformation (CM-AVM); however, only a few cases have been reported. Variants in the RASA1 gene have been reported as a cause of CM-AVM. We report the case of an adult patient with pial AVF, who carried variants in the RASA1 and COL4A2 genes. The patient in the current report was likely to have been affected by CM-AVM and the RASA1 variant seemed to be the primary factor in the pathogenesis of pial AVF. However, COL4A2 may have also contributed to the development of pial AVF because the COL4A2 and RASA1 variants have a common pathophysiology, wherein the patient develops lesions due to collagen type IV deficiency. •RASA1 and COL4A2 variants were identified in a pial arteriovenous fistula patient.•The new variant in RASA1 gene was identified in a pial arteriovenous fistula patient.•RASA1 and COL4A2 variants both develops lesions due to collagen type IV deficiency.