PDF(Pubmed)
Abstract：
UNASSIGNED: Despite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality and morbidity rates. Our aim was to evaluate the presentation and clinical course, the neurodevelopmental outcome, and the genetic findings of neonates with AVSs.
UNASSIGNED: In this retrospective observational study, medical records of neonates with cerebral AVSs admitted to our hospital from January 2020 to July 2022 were revised. In particular, we evaluated neuroimaging characteristics, endovascular treatment, neurophysiological features, neurodevelopmental outcomes, and genetic findings.
UNASSIGNED: We described the characteristics of 11 patients with AVSs. Ten infants (90.9%) required embolization during the first three months of life. In 5/9 infants, pathological electroencephalography findings were observed; of them, two patients presented seizures. Eight patients performed Median Nerve Somatosensory Evoked Potentials (MN-SEPs): of them, six had an impaired response. We found normal responses at Visual Evoked Potentials and Brainstem Auditory Evoked Potentials. Eight patients survived (72.7%) and were enrolled in our multidisciplinary follow-up program. Of them, 7/8 completed the Bayley-III Scales at 6 months of corrected age: none of them had cognitive and language delays; conversely, a patient had a moderate delay on the Motor scale. The remaining survivor patient developed cerebral palsy and could not undergo Bayley-III evaluation because of the severe psychomotor delay. From the genetic point of view, we found a novel pathogenic variant in the NOTCH3 gene and three additional genomic defects of uncertain pathogenicity.
UNASSIGNED: We propose SEPs as an ancillary test to discern the most vulnerable infants at the bedside, particularly to identify possible future motor impairment in follow-up. The early identification of a cognitive or motor delay is critical to intervene with personalized rehabilitation treatment and minimize future impairment promptly. Furthermore, the correct interpretation of identified genetic variants could provide useful information, but further studies are needed to investigate the role of these variants in the pathogenesis of AVSs.
UNASSIGNED: In this retrospective observational study, medical records of neonates with cerebral AVSs admitted to our hospital from January 2020 to July 2022 were revised. In particular, we evaluated neuroimaging characteristics, endovascular treatment, neurophysiological features, neurodevelopmental outcomes, and genetic findings.
UNASSIGNED: We described the characteristics of 11 patients with AVSs. Ten infants (90.9%) required embolization during the first three months of life. In 5/9 infants, pathological electroencephalography findings were observed; of them, two patients presented seizures. Eight patients performed Median Nerve Somatosensory Evoked Potentials (MN-SEPs): of them, six had an impaired response. We found normal responses at Visual Evoked Potentials and Brainstem Auditory Evoked Potentials. Eight patients survived (72.7%) and were enrolled in our multidisciplinary follow-up program. Of them, 7/8 completed the Bayley-III Scales at 6 months of corrected age: none of them had cognitive and language delays; conversely, a patient had a moderate delay on the Motor scale. The remaining survivor patient developed cerebral palsy and could not undergo Bayley-III evaluation because of the severe psychomotor delay. From the genetic point of view, we found a novel pathogenic variant in the NOTCH3 gene and three additional genomic defects of uncertain pathogenicity.
UNASSIGNED: We propose SEPs as an ancillary test to discern the most vulnerable infants at the bedside, particularly to identify possible future motor impairment in follow-up. The early identification of a cognitive or motor delay is critical to intervene with personalized rehabilitation treatment and minimize future impairment promptly. Furthermore, the correct interpretation of identified genetic variants could provide useful information, but further studies are needed to investigate the role of these variants in the pathogenesis of AVSs.
摘要：
■尽管在产前诊断和产后栓塞程序方面取得了最新进展，颅内动静脉分流术(AVSs)仍然与高死亡率和高发病率相关.我们的目的是评估演示和临床过程，神经发育的结果，以及AVSs新生儿的遗传发现。
■在这项回顾性观察研究中，对我院2020年1月至2022年7月收治的脑AVS新生儿的病历进行了修订.特别是,我们评估了神经影像学特征，血管内治疗,神经生理特点，神经发育结果，和遗传发现。
■我们描述了11例AVSs患者的特征。在生命的前三个月中，有10名婴儿（90.9％）需要栓塞。在5/9婴儿中，观察到病理性脑电图检查结果；其中，两名患者出现癫痫发作。八名患者进行了神经中感诱发电位（MN-SEP）：其中，六个人的反应受损。我们发现视觉诱发电位和脑干听觉诱发电位的反应正常。8例患者存活（72.7%），并参加了我们的多学科随访计划。其中,7/8在校正年龄的6个月时完成了Bayley-III量表：他们都没有认知和语言延迟；相反，1例患者的运动评分有中度延迟.其余的幸存者患者出现了脑瘫，由于严重的精神运动延迟，无法进行Bayley-III评估。从基因的角度来看,我们在NOTCH3基因中发现了一个新的致病变异体和另外三个不确定致病性的基因组缺陷.
■我们建议SEP作为辅助测试，以辨别床边最脆弱的婴儿，特别是在随访中确定未来可能的运动障碍。早期识别认知或运动延迟对于干预个性化康复治疗和及时最小化未来损害至关重要。此外，对已识别的遗传变异的正确解释可以提供有用的信息，但需要进一步的研究来研究这些变异体在AVSs发病机制中的作用.
■在这项回顾性观察研究中，对我院2020年1月至2022年7月收治的脑AVS新生儿的病历进行了修订.特别是,我们评估了神经影像学特征，血管内治疗,神经生理特点，神经发育结果，和遗传发现。
■我们描述了11例AVSs患者的特征。在生命的前三个月中，有10名婴儿（90.9％）需要栓塞。在5/9婴儿中，观察到病理性脑电图检查结果；其中，两名患者出现癫痫发作。八名患者进行了神经中感诱发电位（MN-SEP）：其中，六个人的反应受损。我们发现视觉诱发电位和脑干听觉诱发电位的反应正常。8例患者存活（72.7%），并参加了我们的多学科随访计划。其中,7/8在校正年龄的6个月时完成了Bayley-III量表：他们都没有认知和语言延迟；相反，1例患者的运动评分有中度延迟.其余的幸存者患者出现了脑瘫，由于严重的精神运动延迟，无法进行Bayley-III评估。从基因的角度来看,我们在NOTCH3基因中发现了一个新的致病变异体和另外三个不确定致病性的基因组缺陷.
■我们建议SEP作为辅助测试，以辨别床边最脆弱的婴儿，特别是在随访中确定未来可能的运动障碍。早期识别认知或运动延迟对于干预个性化康复治疗和及时最小化未来损害至关重要。此外，对已识别的遗传变异的正确解释可以提供有用的信息，但需要进一步的研究来研究这些变异体在AVSs发病机制中的作用.
