PDF(Pubmed)
Abstract：
BACKGROUND: Cauda equina neuroendocrine tumors (CENETs), previously known as cauda equina paragangliomas, and multiple cerebral cavernous malformations (CCMs) are uncommon conditions affecting the central nervous system. To the authors\' knowledge, they have not been reported in the same patient.
METHODS: The authors present the case of a 45-year-old male with CENET and concurrent incidental MRI findings of multiple CCMs. Familial CCMs are associated with mutations in the KRIT1 (CCM1), MGC4607 (CCM2), and PDCD10 (CCM3) genes. Peripheral paragangliomas have been associated with mutations in succinate dehydrogenase (SDHx), RET (multiple endocrine neoplasia 2), VHL (von Hippel-Lindau syndrome), and NF1 (neurofibromatosis type 1) genes. Except for a single case, cauda equina paragangliomas have not been associated with any underlying genetic mutations.
CONCLUSIONS: It is unclear whether the co-occurrence of these two rare conditions in the same patient is coincidental or suggests a possible shared pathogenesis. https://thejns.org/doi/10.3171/CASE24102.
METHODS: The authors present the case of a 45-year-old male with CENET and concurrent incidental MRI findings of multiple CCMs. Familial CCMs are associated with mutations in the KRIT1 (CCM1), MGC4607 (CCM2), and PDCD10 (CCM3) genes. Peripheral paragangliomas have been associated with mutations in succinate dehydrogenase (SDHx), RET (multiple endocrine neoplasia 2), VHL (von Hippel-Lindau syndrome), and NF1 (neurofibromatosis type 1) genes. Except for a single case, cauda equina paragangliomas have not been associated with any underlying genetic mutations.
CONCLUSIONS: It is unclear whether the co-occurrence of these two rare conditions in the same patient is coincidental or suggests a possible shared pathogenesis. https://thejns.org/doi/10.3171/CASE24102.
摘要：
背景：马尾神经内分泌肿瘤（CENET），以前被称为马尾副神经节瘤，多发性脑海绵状畸形（CCMs）是影响中枢神经系统的罕见疾病。就作者所知，他们没有在同一患者中报告。
方法：作者介绍了一例45岁男性CENET并同时出现多个CCM的偶发MRI结果。家族性CCM与KRIT1（CCM1）突变有关，MGC4607(CCM2),和PDCD10(CCM3)基因。外周副神经节瘤与琥珀酸脱氢酶（SDHx）突变有关，RET（多发性内分泌瘤2），VHL(vonHippel-Lindau综合征),和NF1（1型神经纤维瘤病）基因。除了一个案子,马尾副神经节瘤没有任何潜在的基因突变。
结论：尚不清楚这两种罕见疾病在同一患者中的共同发生是否是巧合或提示可能的共同发病机制。https://thejns.org/doi/10.3171/CASE24102。
方法：作者介绍了一例45岁男性CENET并同时出现多个CCM的偶发MRI结果。家族性CCM与KRIT1（CCM1）突变有关，MGC4607(CCM2),和PDCD10(CCM3)基因。外周副神经节瘤与琥珀酸脱氢酶（SDHx）突变有关，RET（多发性内分泌瘤2），VHL(vonHippel-Lindau综合征),和NF1（1型神经纤维瘤病）基因。除了一个案子,马尾副神经节瘤没有任何潜在的基因突变。
结论：尚不清楚这两种罕见疾病在同一患者中的共同发生是否是巧合或提示可能的共同发病机制。https://thejns.org/doi/10.3171/CASE24102。
