Yamanaka Sae, Tokimura Hiroshi, Higa Nayuta, Iwamoto Hirofumi, Nishimuta Yosuke, Sueyoshi Kazunobu, Yonezawa Hajime, Tajitsu Kenichiro, Akahane Toshiaki, Tanimoto Akihide, Hanaya Ryosuke
Department of Neurosurgery, Kagoshima City Hospital, Kagoshima, Kagoshima, Japan.
Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Kagoshima, Japan.
NMC Case Rep J. 2023 Oct 14;10:303-308. doi: 10.2176/jns-nmc.2023-0152. eCollection 2023.
Hemorrhagic pilocytic astrocytomas (PAs) are rare, accounting for 1.1%-8.0% of all PA cases. They are reported to occur more frequently in older populations, with a male predominance. In this study, we report a case of a 14-year-old boy who presented with a headache, vertigo, and diplopia. As per his brain computed tomography scan, a small hematoma was observed in the left inferior cerebellar peduncle. Follow-up magnetic resonance imaging (MRI) revealed repeated minor bleeding from the lesion and mild expansion, with no neurological deficits. Four years later, the patient developed nausea, vomiting, and left abducens palsy. MRI revealed a mulberry-shaped mass surrounded by a hypointense rim, suggesting a cavernous angioma. The lesion was surgically resected via midline occipital craniotomy with the opening of the cerebellomedullary fissure. Histopathological examination of the lesion revealed PA. Next-generation sequencing analyses revealed that PAs harbored mutations in the , , and genes but not in the gene. To the best of our knowledge, there are yet no reported studies on these mutations in PAs to date. Thus, PA should be considered in the differential diagnosis of cerebellar hemorrhage, especially in young adults and children..
出血性毛细胞型星形细胞瘤(PAs)较为罕见,占所有PA病例的1.1%-8.0%。据报道,它们在老年人群中更常见,男性居多。在本研究中,我们报告了一例14岁男孩,他出现头痛、眩晕和复视。根据他的脑部计算机断层扫描,在左小脑下脚观察到一个小血肿。后续的磁共振成像(MRI)显示病变反复出现少量出血并轻度扩大,无神经功能缺损。四年后,患者出现恶心、呕吐和左侧展神经麻痹。MRI显示一个桑葚状肿块,周围有低信号环,提示海绵状血管瘤。通过枕部中线开颅并打开小脑延髓裂对病变进行了手术切除。病变的组织病理学检查显示为PA。二代测序分析显示,PAs在 、 和 基因中存在突变,但在 基因中未发现突变。据我们所知,迄今为止尚无关于PAs中这些突变的报道研究。因此,在小脑出血的鉴别诊断中应考虑PA,尤其是在年轻人和儿童中。