早产双胞胎脊髓肌肉萎缩症的早期治疗

IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Journal of Child Neurology Pub Date : 2025-03-02 DOI:10.1177/08830738251322224
Jacob Bistritzer, Dekel Avital, Inbal Golan-Tripto, Ramy Abramsky, Iris Noyman
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引用次数: 0

摘要

脊髓性肌萎缩症的早期治疗被广泛认为是改善神经系统和呼吸系统预后的关键,尤其是对无症状的婴儿。随着新生儿筛查范围的扩大,现在有更多的婴儿在无症状前就得到了诊断。目前,对于患有脊髓性肌萎缩的早产儿还没有既定的治疗指南,只有一些轶事报道。此外,人们对早产儿接受不同治疗的安全性和有效性的了解也很有限。在以色列,虽然脊髓性肌萎缩症的新生儿筛查计划尚未实施,但有相当一部分人参加了基因携带者筛查。在此,我们介绍一例无症状早产双胞胎,出生时胎龄为 32+2 周,出生体重分别为 1855 克和 1740 克。他们分别在胎龄 35 周和 43 周时接受了利血平治疗,随后又接受了onasemnogene abeparvovec 治疗。该病例为早产儿治疗方案的有限数据增添了新的内容。
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Early Treatment in Preterm Twins With Spinal Muscular Atrophy.

Early treatment in spinal muscular atrophy is widely recognized as critical for improving neurologic and respiratory outcomes, especially in presymptomatic infants. With the expansion of newborn screening, more infants are now diagnosed presymptomatically. Currently, there are no established treatment guidelines for preterm infants with spinal muscular atrophy, with only anecdotal reports available. Additionally, there is limited knowledge regarding the safety and efficacy of the different treatments in preterm infants. In Israel, although a newborn screening program for spinal muscular atrophy is not yet implemented, a significant portion of the population participates in genetic carrier screening. Here, we present a case of presymptomatic preterm twins, born at gestational age of 32 + 2 weeks, birth weights of 1855 and 1740 g, respectively. They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.

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来源期刊
Journal of Child Neurology
Journal of Child Neurology 医学-临床神经学
CiteScore
4.20
自引率
5.30%
发文量
111
审稿时长
3-6 weeks
期刊介绍: The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.
期刊最新文献
Early Treatment in Preterm Twins With Spinal Muscular Atrophy. Neurologic Disease and Vitamin B12 Levels in Children. Thanks to Reviewers. Thalamic Volume Reduction in Cerebral Visual Impairment: Relationship to Visual Dysfunction. Brain and Spine Magnetic Resonance Imaging (MRI) Characteristics of a Pediatric Cohort With MOGAD.
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