Department of Radiation Oncology, Beijing Tiantan Hospital, Capital Medical University, 119, South 4th Ring West Road, Fengtai District, Beijing, China.
Department of Molecular Neuropathology, Beijing Neurosurgery Institute, Capital Medical University, Beijing, China.
BMC Neurol. 2021 May 25;21(1):210. doi: 10.1186/s12883-021-02238-0.
Primary right brachium pontis germinoma with hypertrophic olivary degeneration (HOD) is extremely rare. A preoperative diagnosis is challenging due to the absence of characterized clinical and neuroimaging features, and biopsy should be considered.
A 20-year-old male patient presented with a case of primary intracranial germinoma originating from right brachium pontis with HOD manifesting as ocular myoclonus, nystagmus in both eyes, ataxic gait and incoordination of the limbs. Magnetic resonance imaging (MRI) revealed an irregular patchy lesion with hyperintensity on T2-weighted images (T2WI) and T2 fluid-attenuated inversion recovery (FLAIR) without enhancement by gadolinium (Gd). Furthermore, a focal hyperintense nodule on T2WI in the left inferior olive nucleus (ION) of the medulla oblongata was considered hypertrophic olivary degeneration (HOD) based on the patient's symptoms and neuroimaging findings. Due to suspected demyelinating disease and low-grade glioma (LGG), a biopsy was planned. The pathological diagnosis was germinoma. Subsequently, he received chemoradiation therapy, resulting in the improvement of neurological deficits and the disappearance of the lesion on MRI.
A case of "Primary right brachium pontis germinoma with HOD" is reported for the first time. A preoperative diagnosis is challenging due to the fact of absence of clinical signs and symptoms and neuroimaging characteristics. However, patients can have favourable prognoses with appropriate evaluation and treatment.
原发性右桥臂脑桥生殖细胞瘤伴肥大性橄榄核变性(HOD)极为罕见。由于缺乏特征性的临床和神经影像学特征,术前诊断具有挑战性,应考虑进行活检。
一名 20 岁男性患者,表现为原发性颅内生殖细胞瘤起源于右桥臂,伴 HOD,表现为眼球震颤、双眼眼球震颤、共济失调步态和四肢协调障碍。磁共振成像(MRI)显示不规则斑片状病变,T2 加权图像(T2WI)和 T2 液体衰减反转恢复(FLAIR)呈高信号,钆(Gd)增强后无强化。此外,根据患者的症状和神经影像学发现,考虑到肥大性橄榄核变性(HOD),在延髓左下橄榄核(ION)的 T2WI 上可见一个局灶性高信号结节。由于怀疑脱髓鞘疾病和低级别胶质瘤(LGG),计划进行活检。病理诊断为生殖细胞瘤。随后,他接受了放化疗,神经功能缺损得到改善,MRI 上的病变消失。
首次报道一例“原发性右桥臂脑桥生殖细胞瘤伴 HOD”。由于缺乏临床症状和神经影像学特征,术前诊断具有挑战性。然而,通过适当的评估和治疗,患者可以获得良好的预后。