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<p>Enlarged parietal foramina (EPF) are rare, bilateral, symmetric calvarial defects, most commonly inherited in an autosomal-dominant manner. We report an exceptionally rare case of a ruptured parietal arteriovenous malformation (AVM) situated immediately beneath an EPF and resected via the calvarial defect. A 46-year-old man with no prior medical history presented with acute left upper-limb incoordination. Head computed tomography revealed a 3-cm right parietal subcortical hemorrhage and bilateral symmetric parietal defects; similar defects in his mother, uncle, and grandfather supported a diagnosis of familial EPF. The hemorrhage was directly subjacent to the defect, without antecedent trauma. Angiography identified a Spetzler–Martin grade I AVM within the hematoma. Using the EPF as a corridor, microsurgical resection was performed. The osseous defect was filled with fibrous connective tissue, and the dura was focally thickened with firm dural–arachnoid adhesions. The AVM nidus was removed en bloc. Postoperatively, left upper-limb incoordination resolved promptly and the patient was discharged with a modified Rankin Scale score of 0. Histopathology confirmed an AVM nidus and demonstrated infiltration of inflammatory cells, including polymorphonuclear leukocytes, around abnormal vascular walls and within the dura. Whole-genome sequencing revealed a pathogenic ALX4 nonsense variant (c.793C&gt;T, p.Arg265Ter) and no pathogenic variants in established brain-AVM predisposition genes. The spatial concordance of EPF and AVM, together with the inflammatory histopathology, raises the possibility that EPF-associated inflammation may influence subjacent AVM biology or rupture susceptibility, although causality remains unproven.</p>

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Ruptured cerebral arteriovenous malformation associated with enlarged parietal foramina: a rare surgical case with pathogenetic implications

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月29日

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  • Toru Umehara,
  • Hiroki Kiyokawa,
  • Shuhei Yamada,
  • Yoshihiro Yano,
  • Toshiaki Fujita,
  • Haruhiko Kishima

摘要

Enlarged parietal foramina (EPF) are rare, bilateral, symmetric calvarial defects, most commonly inherited in an autosomal-dominant manner. We report an exceptionally rare case of a ruptured parietal arteriovenous malformation (AVM) situated immediately beneath an EPF and resected via the calvarial defect. A 46-year-old man with no prior medical history presented with acute left upper-limb incoordination. Head computed tomography revealed a 3-cm right parietal subcortical hemorrhage and bilateral symmetric parietal defects; similar defects in his mother, uncle, and grandfather supported a diagnosis of familial EPF. The hemorrhage was directly subjacent to the defect, without antecedent trauma. Angiography identified a Spetzler–Martin grade I AVM within the hematoma. Using the EPF as a corridor, microsurgical resection was performed. The osseous defect was filled with fibrous connective tissue, and the dura was focally thickened with firm dural–arachnoid adhesions. The AVM nidus was removed en bloc. Postoperatively, left upper-limb incoordination resolved promptly and the patient was discharged with a modified Rankin Scale score of 0. Histopathology confirmed an AVM nidus and demonstrated infiltration of inflammatory cells, including polymorphonuclear leukocytes, around abnormal vascular walls and within the dura. Whole-genome sequencing revealed a pathogenic ALX4 nonsense variant (c.793C>T, p.Arg265Ter) and no pathogenic variants in established brain-AVM predisposition genes. The spatial concordance of EPF and AVM, together with the inflammatory histopathology, raises the possibility that EPF-associated inflammation may influence subjacent AVM biology or rupture susceptibility, although causality remains unproven.