Vuillermet P, Cauliez B, Fréger P, Vannier J P, Pellerin A, Kuhn J M
Department of Endocrinology, University Hospital, Rouen, France.
J Pediatr Endocrinol Metab. 2008 Dec;21(12):1169-78. doi: 10.1515/jpem.2008.21.12.1169.
Primary germ cell tumors (PGCT) of the central nervous system usually develop in the third ventricle area, and most frequently in the pineal region. The suprasellar region is the second preferential site for development of these tumors which are rarely simultaneously present in these two sites. We report five new cases of PGCT with pineal and suprasellar localizations, which appeared in late puberty in four boys and one girl aged 17-19 years. The clinical picture associated signs of intracranial hypertension, convergence and verticality palsies, diabetes insipidus and pituitary deficiency. Encephalic MRI revealed a double localization. Endocrine tests revealed a particular pattern associating central diabetes insipidus and a hypothalamic-pituitary disconnection syndrome. Following identification of the pathological type of lesions via a neurosurgical approach, treatment was based on a combined method using chemotherapy, radiotherapy and hormone replacement. Based on this treatment, prolonged remissions were obtained with a good quality of life.
中枢神经系统原发性生殖细胞肿瘤(PGCT)通常发生在第三脑室区域,最常见于松果体区。鞍上区是这些肿瘤发展的第二优先部位,且这两个部位很少同时出现肿瘤。我们报告了5例松果体区和鞍上区定位的PGCT新病例,4名男孩和1名17 - 19岁女孩在青春期后期发病。临床表现伴有颅内高压、会聚和垂直性麻痹、尿崩症和垂体功能减退的体征。脑部磁共振成像(MRI)显示为双重定位。内分泌检查显示出一种特殊模式,伴有中枢性尿崩症和下丘脑 - 垂体分离综合征。通过神经外科手术方法确定病变的病理类型后,治疗采用化疗、放疗和激素替代的联合方法。基于这种治疗,患者获得了长期缓解,生活质量良好。