Yang Na, Zhu Hui-Juan, Yao Yong, He Li-Yun, Li Yu-Xiu, You Hui, Zhang Hua-Bing
Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
World J Clin Cases. 2021 Mar 16;9(8):1976-1982. doi: 10.12998/wjcc.v9.i8.1976.
Germinoma is a type of germ cell tumor that most frequently arises in the midline axis of the brain. Impaired vision is a clinical manifestation of germinnoma. Although rare, intracranial germinoma seeding to the perioptic arachnoid space is one cause of visual acuity decrease.
An 11yearold girl who presented with polyuria and polydipsia and subsequently developed diminution of vision. Imaging showed bilateral heterogeneous enhancement of the optic nerve sheaths and atrophy of the optic nerve, and transsphenoidal biopsy revealed a germinoma. The patient experienced poor visual recovery following chemotherapy and radiotherapy. Germinomas are rare and they are mostly identified in children and adolescents. The manifestations include diabetes insipidus, pituitary dysfunction, visual complaints, The mechanisms that lead to visual loss include intracranial hypertension, compression of optic chiasma, and tumor invasion. A literature review was performed to summarize the cases with a tumor infiltrating the optic nerve. Most of the reported patients were adolescents and presented with anterior pituitary hormone deficiency. Enhancement of optic nerve sheaths and optic disc pallor could be identified in most of the cases. The purpose of this report is to provide awareness that in cases where a germinoma is associated with visual loss, though rare, perioptic meningeal seeding should be taken into consideration.
The case report suggests that children with diabetes insipidus need a complete differential diagnosis.
生殖细胞瘤是一种最常发生于脑中线轴的生殖细胞肿瘤。视力受损是生殖细胞瘤的一种临床表现。虽然罕见，但颅内生殖细胞瘤播散至视周蛛网膜下腔是视力下降的一个原因。
一名11岁女孩，最初表现为多尿和烦渴，随后出现视力减退。影像学检查显示双侧视神经鞘不均匀强化及视神经萎缩，经蝶窦活检确诊为生殖细胞瘤。该患者在化疗和放疗后视力恢复不佳。生殖细胞瘤罕见，多见于儿童和青少年。其表现包括尿崩症、垂体功能障碍、视觉症状等。导致视力丧失的机制包括颅内高压、视交叉受压和肿瘤浸润。通过文献回顾总结了肿瘤浸润视神经的病例。大多数报告的患者为青少年，表现为垂体前叶激素缺乏。大多数病例中可发现视神经鞘强化和视盘苍白。本报告的目的是提醒注意，在生殖细胞瘤伴有视力丧失的病例中，尽管罕见，但应考虑视周脑膜播散。
该病例报告提示，患有尿崩症的儿童需要进行全面的鉴别诊断。
