乌干达成年男性常规颅底脊索瘤伴长期头痛：一例病例报告

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中文摘要

背景： 脊索瘤是起源于脊索残余的少见恶性肿瘤，最常累及中轴骨骼，主要是颅底和骶尾部区域。颅底脊索瘤可无症状，或在局灶症状促使影像学检查前引起进行性头痛。在资源有限的环境中，诊断性检查常被拖延，因为患者仅以镇痛药处理，而未及时获得满意的检查。我们报告一例发生于颅底的常规脊索瘤，患者有长期头痛。
病例介绍： 一名49岁男性，表现为一年以上间歇性且进行性加重的头痛。在他报告一次面部麻木发作后，检查记录面部感觉保留。无其他局灶性神经临床异常。头部CT影像显示一个膨胀性、破坏性中线颅底肿块（骨侵蚀），占据颅底区域、蝶窦并延伸至筛窦。经蝶窦行侵袭性活检以进行组织病理学评估，显示形态学符合脊索瘤，免疫组化支持EMA、pan-cytokeratin和S100阳性，CK7、CK20和CD34阴性。Ki-67增殖指数小于5%。综合发现强烈支持常规脊索瘤。Brachyury未能获得。末次记录复查时，患者临床稳定并计划手术治疗；然而在随后的尝试中患者失访。
结论： 进行性头痛伴新报告的局灶性神经症状需要适当的影像学检查和专科评估。对于破坏性中线颅底肿块，形态学和免疫表型相结合强烈支持脊索瘤，而缺乏brachyury确认仍是一项局限。

英文摘要

BACKGROUND: Chordomas are uncommon malignant neoplasms arising from notochordal remnants, most commonly affecting the axial skeleton, mainly the skull base and sacrococcygeal region. Skull base chordoma may be asymptomatic or cause progressive headache before focal symptoms prompt imaging. In resource-limited settings, diagnostic work-up is often prolonged as the patient is managed with analgesics without prompt and satisfactory investigation. We report a case of conventional Chordoma arising at the skull base, in a patient with long standing headache.
CASE PRESENTATION: A 49-year-old man presenting with a more than one-year history of intermittent and progressive worsening headache. After he reported an episode of facial numbness, examination documented preserved facial sensation. There was no other focal neurological clinical abnormality. Head CT imaging revealed an expansile, destructive midline skull base mass (bone erosion) occupying the region of the skull base, sphenoid paranasal sinus extending into the ethmoid. An invasive biopsy through the sphenoid sinuses was obtained for histopathologic evaluation, which showed morphology consistent with chordoma, supported by IHC showing positivity for EMA, pan-cytokeratin, and S100, with negative CK7, CK20, and CD34. The Ki-67 proliferation index was less than 5%. The integrated findings strongly supported conventional chordoma. Brachyury was unavailable. At last documented review, the patient was clinically stable and surgical management was planned; however the patient was lost to follow-up on subsequent attempts.
CONCLUSION: Progressive headache with a newly reported focal neurological symptom warrants appropriate imaging and specialist assessment. In a destructive midline skull base mass, the combined morphology and immunophenotype strongly support chordoma, while the absence of brachyury confirmation remains a limitation.