PDF(Pubmed)
Abstract：
Burkitt lymphoma is an aggressive B-cell non-Hodgkin lymphoma (NHL). Primary CNS lymphoma (PCNSL) is a rare disease, and the subtype of Burkitt lymphoma presenting as a sole CNS lesion is an even rarer diagnosis. Acute sudden blindness is a rare presenting symptom of PCNSL or NHL in general. We present an interesting case of a four-year-old boy with dysmorphic features whose visual examination showed a sudden bilateral loss of vision. There was bilateral eye proptosis and complete ptosis. Extraocular muscles were fixed straight. The pupils were fixed and mid dilated bilaterally and there was grade 3/4 papilledema in both eyes. Neuroimaging showed a mass in the base of the skull, extending to orbits and sinuses. A cervical biopsy of the enlarged lymph nodes was taken and a histopathological diagnosis of Burkitt lymphoma was made. Genetic analysis showed a GNB1 mutation, and the patient was diagnosed with Kabuki syndrome by a pediatrician, based on characteristic dysmorphic features. Treatment with steroids and chemotherapy was initiated.
摘要：
伯基特淋巴瘤是一种侵袭性B细胞非霍奇金淋巴瘤（NHL）。原发性中枢神经系统淋巴瘤（PCNSL）是一种罕见的疾病，而伯基特淋巴瘤的亚型表现为唯一的中枢神经系统病变是一个更罕见的诊断。急性突然失明通常是PCNSL或NHL的罕见症状。我们介绍了一个有趣的案例，该案例是一个四岁男孩的畸形特征，其视觉检查显示双侧视力突然丧失。双侧眼突出和完全上睑下垂。眼外肌直线固定。瞳孔固定，双侧中度扩张，双眼均有3/4级乳头水肿。神经影像显示颅底有肿块，延伸到轨道和鼻窦。对肿大的淋巴结进行了宫颈活检，并进行了伯基特淋巴瘤的组织病理学诊断。遗传分析显示GNB1突变,病人被儿科医生诊断为歌舞uki综合征，基于特征的变形特征。开始用类固醇和化疗进行治疗。
