Islak Civan, Bağcılar Ömer, Selçuk Hakan Hatem, Saltık Sema, Korkmazer Bora, Zubarioğlu Tanyel, Arslan Serdar, Üstündag Ahmet, Kızılkılıç Osman
Department of Radiology, Acıbadem Maslak Hospital, Istanbul, Turkey.
Department of Radiology, Memorial Şişli Hospital, Istanbul, Turkey.
Clin Neuroradiol. 2025 Mar;35(1):67-75. doi: 10.1007/s00062-024-01451-x. Epub 2024 Sep 2.
In 2022, arterioectatic spinal angiopathy (AESA) of childhood was reported as a fatal, progressive, multi-segment myelopathy associated with a unique form of non-inflammatory spinal angiopathy involving diffuse dilatation of the anterior spinal artery and cord congestion in children. In this study, we present four more cases of AESA, using early and long-term conventional imaging and flat detector computed tomography angiography (FDCTA) imaging to assess the probability of disease regression and prevent unnecessary interventions.
We retrospectively reviewed the clinical and radiological findings of four patients with AESA seen in two neuroradiology departments between 2014 and 2023.
The study included three boys and one girl. Two of the boys were siblings. Although the clinical and radiological presentation in the early stages of the clinical course overlapped the definition of AESA, the clinical course was more benign in three of the cases. The clinical courses of the two siblings with monosegmental cord involvement and largely reversible radiological findings suggest that some of the features in the initial definition of the disease cannot be standardized for all patients. The siblings had a mutation of the NDUFS gene, which is involved in mitochondrial function and clinical-radiological reversibility in these patients.
Many mitochondrial diseases, such as this NDUFS mutation, present with myelopathy, and mitochondrial diseases can sometimes show spontaneous recovery. It is crucial to identify other genetic mutations or environmental factors that trigger the accompanying vascular ectatic findings in AESA in larger multicenter studies to prevent its potential lethal course and possible unnecessary surgical-endovascular interventions.
2022年，儿童动脉扩张型脊髓血管病（AESA）被报告为一种致命的、进行性的多节段脊髓病，与一种独特的非炎性脊髓血管病相关，该疾病涉及儿童脊髓前动脉的弥漫性扩张和脊髓充血。在本研究中，我们报告了另外4例AESA病例，使用早期和长期的传统成像以及平板探测器计算机断层血管造影（FDCTA）成像来评估疾病消退的可能性，并防止不必要的干预。
我们回顾性分析了2014年至2023年期间在两个神经放射科就诊的4例AESA患者的临床和影像学表现。
该研究包括3名男孩和1名女孩。其中两名男孩是兄弟姐妹。尽管临床病程早期的临床和影像学表现与AESA的定义相符，但其中3例的临床病程更为良性。两名单节段脊髓受累且影像学表现基本可逆的兄弟姐妹的临床病程表明，该疾病初始定义中的一些特征并非适用于所有患者。这对兄弟姐妹存在NDUFS基因突变，该基因与线粒体功能以及这些患者的临床-影像学可逆性有关。
许多线粒体疾病，如这种NDUFS基因突变，可表现为脊髓病，且线粒体疾病有时可自发恢复。在更大规模的多中心研究中，识别其他引发AESA中伴随血管扩张表现的基因突变或环境因素，对于预防其潜在的致命病程以及可能不必要的外科-血管内干预至关重要。
