Uemura Hiroya, Tanji Masahiro, Natsuhara Hiroki, Takeuchi Yasuhide, Hoki Masahito, Sugimoto Akihiko, Minamiguchi Sachiko, Kawasaki Hidenori, Torishima Masako, Kosugi Shinji, Mineharu Yohei, Arakawa Yoshiki, Yoshida Kazumichi, Miyamoto Susumu
1Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
2Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan; and.
J Neurosurg Case Lessons. 2022 Jan 3;3(1). doi: 10.3171/CASE21572.
Craniopharyngioma (CP) often arises in the sellar and suprasellar areas; ectopic CP in the posterior fossa is rare. Familial adenomatous polyposis (FAP) is a genetic disorder involving the formation of numerous adenomatous polyps in the gastrointestinal tract, and it is associated with other extraintestinal manifestations.
The authors reported the case of a 63-year-old woman with FAP who presented with headache and harbored a growing mass in the fourth ventricle. Magnetic resonance imaging (MRI) findings revealed a well-circumscribed mass with high intensity on T1-weighted images and low intensity on T2-weighted images and exhibited no contrast enhancement. Gross total resection was performed and histopathology revealed an adamantinomatous CP (aCP). The authors also reviewed the previous reports of ectopic CP in the posterior fossa and found a high percentage of FAP cases among the ectopic CP group, thus suggesting a possible association between the two diseases.
An ectopic CP may be reasonably included in the differential diagnosis in patients with FAP who present with well-circumscribed tumors in the posterior fossa.
颅咽管瘤（CP）常起源于鞍区和鞍上区；后颅窝异位CP罕见。家族性腺瘤性息肉病（FAP）是一种遗传性疾病，涉及胃肠道中大量腺瘤性息肉的形成，且与其他肠外表现相关。
作者报告了一例63岁患有FAP的女性病例，该患者出现头痛，第四脑室内有一逐渐增大的肿块。磁共振成像（MRI）结果显示，肿块边界清晰，T1加权像上呈高信号，T2加权像上呈低信号，且无强化。进行了全切除，组织病理学显示为成釉细胞瘤型CP（aCP）。作者还回顾了先前关于后颅窝异位CP的报道，发现异位CP组中FAP病例的比例很高，因此提示这两种疾病之间可能存在关联。
对于患有FAP且后颅窝出现边界清晰肿瘤的患者，异位CP可合理地纳入鉴别诊断。
