Pierzchlewicz Katarzyna, Bilska Małgorzata, Jurkiewicz Elżbieta, Chmielewski Dariusz, Moszczyńska Elżbieta, Daszkiewicz Paweł, Ciołkowski Maciej, Grajkowska Wiesława, Kotulska Katarzyna
Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland.
Department of Diagnostic Imaging, Children's Memorial Health Institute, Warsaw, Poland.
Child Neurol Open. 2019 May 20;6:2329048X19848181. doi: 10.1177/2329048X19848181. eCollection 2019.
The authors report a case of a germinoma of the brain in the child with symptoms restricted to central nervous system. Ten-year-old girl presented initially with sight deterioration, learning difficulties, abnormal behavior, polydipsia, and polyuria. Brain magnetic resonance examination revealed T2 hyperintensity of the corpus callosum, anterior commissure, and caudate nuclei. Brain biopsy revealed extensive macrophage infiltration. Given these results and positive antinuclear antibodies in the blood, immunosuppressive and immunomodulatory treatment was implemented but it was not effective. The patient developed progressive quadriparesis, sleep disturbances, and dementia. Second brain biopsy was performed and it revealed germinoma cells. Chemotherapy was administered, but the girl died due to disseminated intravascular coagulation syndrome. The reported case shows an unusual coexistence of germinoma with prominent inflammation in the brain and highlights the importance of brain biopsy in such complex cases.
作者报告了一例脑部生殖细胞瘤患儿,其症状局限于中枢神经系统。一名10岁女孩最初表现为视力减退、学习困难、行为异常、烦渴和多尿。脑部磁共振检查显示胼胝体、前连合和尾状核T2高信号。脑活检显示广泛的巨噬细胞浸润。鉴于这些结果以及血液中抗核抗体呈阳性,实施了免疫抑制和免疫调节治疗,但无效。患者出现进行性四肢瘫痪、睡眠障碍和痴呆。进行了第二次脑活检,结果显示为生殖细胞瘤细胞。给予了化疗,但女孩因弥散性血管内凝血综合征死亡。报告的病例显示了生殖细胞瘤与脑部显著炎症的异常共存,并强调了在这种复杂病例中脑活检的重要性。