成年女性基底节区生殖细胞瘤

Basal ganglia germinoma in a female adult

目的总结基底节区生殖细胞瘤的特点。方法对1例基底节区生殖细胞瘤的成年女性患者的临床、影像学资料,以及诊治过程进行回顾性分析。结果女性患者29岁,主要临床表现为进行性右侧肢体无力,伴有认知功能改变。头颅MRI显示左侧基底节区病变,伴有左侧大脑脚变小和侧脑室变大等偏侧萎缩。复查头颅MRI左侧基底节区病变逐渐加重。两次脑脊液检查,脑脊液常规和生化正常。血肿瘤标志物检查:CA72-4 9.18U/ml(正常值:0~6.9U/ml)。血HCG 5.28 IU/L(正常值<5.00),脑脊液HCG 29.24 IU/L。行立体定向脑活检术,病理结果证实为基底节区生殖细胞瘤。结论基底节区生殖细胞瘤多发生于20岁以下的青少年男性,成年女性发病比较罕见。基底节区生殖细胞瘤临床表现主要为进行性的一侧肢体无力,头颅MRI表现为一侧基底节区病变,早期病变可不明显,常伴有病变同侧的偏侧萎缩。结合病史、影像学变化、血和脑脊液HCG升高等,可早期诊断基底节区生殖细胞瘤。

Objective To summarize the characteristics of basal ganglia germinoma. Methods The clinical information and neuroimaging of a female adult with basal ganglia germinoma were analyzed. Results A 29-year-old female patient was admitted because of ＂progressive weakness of right limbs for 19 months and cognitive impairment for one year.＂ Past medical history and family history were negative. Neurological examination revealed right-side hemiparesis and cognitive impairment. Brian MRI showed the lesions in the left basal ganglion and ipsilateral hemispheric brain atrophy. HCG level of serum and cerebrospinal fluid elevated ： serum HCG5.28 IU/L（ normal range 〈5.00 IU/L） and CSF HCG 29.24 IU/L. The diagnosis of basal ganglia germinoma was suspected. Brain biopsy was performed and the pathological results confirmed the diagnosis of basal ganglia germinoma. Conclusion The diagnosis of basal ganglia germinoma should be considered in the male adolescent with progressive hemiparesis and the basal ganglia lesions with hemiatrophy in brain MRI. The serum and CSF HCG examinations are valuable for the diagnosis. Basal ganglia germinoma almost exclusively affects young men, which is rare in female adult.