关键词: ADPKD case report glioma glioneuronal tumor polycystic kidney disease

来  源:   DOI:10.1097/MS9.0000000000002265   PDF(Pubmed)

Abstract:
UNASSIGNED: The association between primary brain tumors, such as glioneuronal tumors, with autosomal-dominant polycystic kidney disease (ADPKD) remains poorly understood, with only two cases reported excluding this one. This case of an ADPKD patient diagnosed with a rosette-forming glioneuronal tumor highlights an exceptionally rare potential association warranting further investigation.
UNASSIGNED: A 28-year-old male with ADPKD presented with progressive ataxia, dizziness, and headache. MRI revealed a cerebellar mass and obstructive hydrocephalus. Surgical resection and histopathological examination confirmed the diagnosis of a rosette-forming glioneuronal tumor. Postoperatively, the patient showed significant symptom improvement.
UNASSIGNED: The interplay between genetics and glioneuronal development is complex and underexplored. While most glioneuronal arise sporadically, rare genetic syndromes may predispose individuals to these tumors. Additionally, although more than 70 cases of ADPKD with concurrent tumors were reported, the literature on this specific association remains limited.
UNASSIGNED: This case underscores the need for heightened awareness of potential associations between ADPKD and tumors such as glioneuronal tumors. With limited literature on this subject, further research is imperative to understand the underlying mechanisms and clinical implications. Enhancing our knowledge in this area can improve patient outcomes and management strategies.
摘要:
原发性脑肿瘤,比如神经胶质神经肿瘤,常染色体显性多囊肾病(ADPKD)的患者仍然知之甚少,报告的只有两个病例不包括这一个。这例ADPKD患者被诊断患有玫瑰花结形成的神经胶质细胞肿瘤,突显了一种非常罕见的潜在关联,需要进一步研究。
一名28岁男性患有ADPKD,表现为进行性共济失调,头晕,和头痛。MRI显示小脑肿块和阻塞性脑积水。手术切除和组织病理学检查证实了玫瑰花结形成的神经胶质细胞肿瘤的诊断。术后,患者症状明显改善。
遗传学与神经胶质神经元发育之间的相互作用是复杂且未充分开发的。虽然大多数神经胶质神经元偶尔出现,罕见的遗传综合征可能使个体易患这些肿瘤。此外,尽管报告了70多例ADPKD并发肿瘤,关于这种特定关联的文献仍然有限。
这个案例强调了需要提高对ADPKD和肿瘤如神经胶质细胞肿瘤之间潜在关联的认识。关于这个主题的文献有限,进一步的研究是必要的,以了解潜在的机制和临床意义。增强我们在这一领域的知识可以改善患者的预后和管理策略。
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