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Christine Tschoe, Teddy E. Kim, Kyle M. Fargen, and Stacey Q. Wolfe

Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α–smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.

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Christine Tschoe, Teddy E. Kim, Kyle M. Fargen, and Stacey Q. Wolfe

Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α–smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.

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Mark B. Frenkel, Jaclyn J. Renfrow, Jasmeet Singh, Nitin Garg, and Stacey Q. Wolfe

Tandem internal carotid artery (ICA) origin occlusion and middle cerebral artery (MCA) thromboembolism is a life-threatening condition with poor neurological outcome. The authors report on a patient presenting with acute ischemic stroke from a tandem ICA and MCA occlusion with penumbra. Emergency MCA mechanical thrombectomy was performed through percutaneous cervical ICA access due to the inability to cross the cervical carotid occlusion. Emergency carotid endarterectomy to reperfuse the poorly collateralized hemisphere and repair the ICA access site was performed 2 hours after completion of tissue plasminogen activator (tPA) infusion. This case illustrates the shortest reported interval between tPA infusion and open surgical intervention for carotid revascularization, as well as the role of direct carotid artery access for mechanical thrombectomy. The authors also describe the use of a temporizing femoral artery–to–ICA shunt to maintain cerebral perfusion in the setting of ICA occlusion.

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Keyan A. Peterson, Christofer D. Burnette, Kyle M. Fargen, Patrick A. Brown, James L. West, Stephen B. Tatter, and Stacey Q. Wolfe

The authors report the case of a 30-year-old female patient with suspected Cushing’s disease with an anatomical variation of hypoplastic inferior petrosal sinuses and nearly exclusive anterior drainage from the cavernous sinus, who underwent external jugular venous blood sampling with successful disease confirmation and microadenoma localization. The patient presented with signs and symptoms consistent with Cushing’s syndrome, but with discordant preliminary diagnostic testing. She underwent attempted bilateral inferior petrosal sinus sampling; however, she had hypoplastic inferior petrosal sinuses bilaterally and predominantly anterior drainage from the cavernous sinus into the external jugular circulation. Given this finding, the decision was made to proceed with external jugular venous access and sampling in addition to internal jugular venous sampling. A positive adrenocorticotropic hormone (ACTH) response to corticotropin-releasing factor was obtained in the right external jugular vein alone, suggesting a right-sided pituitary microadenoma as the cause of her Cushing’s disease. The patient subsequently underwent a transsphenoidal hypophysectomy that confirmed the presence of a right-sided ACTH-secreting microadenoma, which was successfully resected. She was hypocortisolemic on discharge and has had no signs of recurrence or relapse at 6 months postoperation.

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Keyan A. Peterson, Christofer D. Burnette, Kyle M. Fargen, Patrick A. Brown, James L. West, Stephen B. Tatter, and Stacey Q. Wolfe

The authors report the case of a 30-year-old female patient with suspected Cushing’s disease with an anatomical variation of hypoplastic inferior petrosal sinuses and nearly exclusive anterior drainage from the cavernous sinus, who underwent external jugular venous blood sampling with successful disease confirmation and microadenoma localization. The patient presented with signs and symptoms consistent with Cushing’s syndrome, but with discordant preliminary diagnostic testing. She underwent attempted bilateral inferior petrosal sinus sampling; however, she had hypoplastic inferior petrosal sinuses bilaterally and predominantly anterior drainage from the cavernous sinus into the external jugular circulation. Given this finding, the decision was made to proceed with external jugular venous access and sampling in addition to internal jugular venous sampling. A positive adrenocorticotropic hormone (ACTH) response to corticotropin-releasing factor was obtained in the right external jugular vein alone, suggesting a right-sided pituitary microadenoma as the cause of her Cushing’s disease. The patient subsequently underwent a transsphenoidal hypophysectomy that confirmed the presence of a right-sided ACTH-secreting microadenoma, which was successfully resected. She was hypocortisolemic on discharge and has had no signs of recurrence or relapse at 6 months postoperation.

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Martin N. Stienen, Oliver P. Gautschi, Karl Schaller, David Netuka, Andreas K. Demetriades, Florian Ringel, Jens Gempt, and Dominique Kuhlen

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Mark B. Frenkel, Casey D. Frey, Jaclyn J. Renfrow, Stacey Q. Wolfe, Alexander K. Powers, and Charles L. Branch Jr.