Mohammed V University, Pediatric Hematology and Oncology Department, Children's Hospital in Rabat, Rabat, Morocco.
Mohammed V University, Radiology Department, Children's Hospital in Rabat, Rabat, Morocco.
Pan Afr Med J. 2023 Apr 19;44:183. doi: 10.11604/pamj.2023.44.183.39885. eCollection 2023.
Our patient had an extremely rare type of pediatric Diffuse Midline Glioma (DMG) with modified H3 K27 that occurred in the cervical spinal cord. Due to its location in the spinal cord, slow clinical presentation with torticollis for 7 months, and the non-specific radiological appearance of this tumour, it was initially considered to be a low-grade glioma. Based on imaging findings, the neurosurgery team performed a complete surgical resection, but the pathological features were consistent with a high-grade, diffuse midline glioma. Therefore, we are reporting a case of an altered high-grade DMG H3K27 glioma, which is difficult to diagnose due to its slow clinical symptoms which caused a delay in diagnosis, non-specific imaging, and with difficulty in accessing histopathological markers in low and middle income countries (LMIC).
我们的患者患有一种极其罕见的小儿弥漫性中线胶质瘤（DMG），其 H3 K27 发生了改变，发生于颈髓。由于肿瘤位于脊髓，且临床症状出现缓慢，表现为痉挛性斜颈长达 7 个月，且该肿瘤的影像学表现不具有特异性，因此最初被认为是低级别胶质瘤。基于影像学表现，神经外科团队进行了完全手术切除，但病理特征与高级别弥漫性中线胶质瘤一致。因此，我们报告了一例 H3K27 改变的高级别 DMG 神经胶质瘤病例，由于其临床症状出现缓慢，导致诊断延迟，影像学不具有特异性，并且在中低收入国家（LMIC）难以获得组织病理学标志物，因此诊断较为困难。
