Issue 03
June 2024
Editor's Choice 1
Xin Gao, Guoyan Xin, Ya Tu, Xiaoping Liang, Huimin Yang, Hong Meng, Yumin Wang
该研究旨在探索由 TARS2 复合杂合子致病变体引起的联合氧化磷酸化缺陷 21 型（COXPD21）的临床和遗传特征，并提高临床医生对该疾病的认识。
Editor's Choice 2
Öz Yıldız et al.
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
ADPRHL2 参与翻译后修饰，已知在细胞信号传导、DNA 修复、基因控制、细胞死亡和应激反应等生理功能中发挥作用。最近，一组由 ADPRHL2 变体引起的神经系统疾病被描述出来，其特征为儿童期发病、应激诱发的可变运动障碍、神经病变、癫痫发作和神经退行性病程。我们介绍了两名患有发作性肌张力障碍和共济失调的儿科患者的诊断过程，这两名患者后来出现了神经退行性病变，并因相同的同型ADPRHL2变异体而并发中枢通气不足综合征。
Editor's Choice 3
Kahl et al.
顶骨孔 (FPP) 是一种罕见的解剖缺陷，会影响人类头骨的顶骨。FPP 的特征是头骨两侧对称穿孔，这是由于胚胎发生过程中骨化不足造成的。这些开口通常异常大，直径从几毫米到几厘米不等。扩大的顶骨孔通常是在解剖或放射学检查中偶然发现的，在大多数情况下，除非出现症状，否则不会进行治疗。虽然这种颅骨缺陷通常没有症状，但它可能伴有神经或血管疾病，在某些情况下可能具有临床意义。FPP 是一种遗传性疾病，是由于 Msh 同源框 2 (MSX2) 或 aristaless-like 同源框 4 (ALX4) 基因突变引起的。在几乎所有情况下，父母一方都会受到影响。临床发现和诊断成像通常有助于确定诊断。
Neuropediatrics
Issue 03 · Volume 55 · June 2024
Review Article
Almomen, Momen; Burgon, Patrick G.:
Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
Öz Yıldız, Sibel; Yalnızoğlu, Dilek; Şimsek Kiper, Pelin Özlem; Göçmen, Rahşan; Soğukpınar, Merve; Utine, Gülen Eda; Haliloğlu, Göknur:
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Original Article
Almomen, Momen; Amer, Fawzia; Alfaraj, Fatima; Burgon, Patrick G.; Bashir, Shahid; Alghamdi, Fouad:
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients
Kutlutürk Yıkılmaz, Seval; Tanrıverdi, Müberra; Öktem, Sedat:
Gao, Xin; Xin, Guoyan; Tu, Ya; Liang, Xiaoping; Yang, Huimin; Meng, Hong; Wang, Yumin:
Pais-Cunha, Inês; Almeida, Ana I.; Curval, Ana R.; Fonseca, Jacinta; Melo, Cláudia; Sampaio, Mafalda; Sousa, Raquel:
Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis
Case Report
Pasca, Ludovica; Politano, Davide; Cavallini, Anna; Panzeri, Elena; Vigone, Maria Cristina; Baldoli, Cristina; Abbate, Marco; Kullmann, Gaia; Marelli, Susan; Pozzobon, Gabriella; Vincenzi, Gaia; Nacinovich, Renata; Bassi, Maria Teresa; Romaniello, Romina:
Short Communication
Menke, C.; Wieland, I.; Bueltmann, E.; Illsinger, S.; Hartmann, H.:
Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism—Case Report and Treatment Options
Yıldırım, Miraç; Yarenci, Gülçin Bilicen; Genç, Mustafa Berk; Uçar, Çiğdem İlter; Bayav, Secahattin; Tekin, Merve Nur; Bektaş, Ömer; Teber, Serap:
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
Kahl, Niklas; Lüsebrink, Natalia; Schubert-Bast, Susanne; Freiman, Thomas M.; Kieslich, Matthias:
Gebert, Johannes; Brunet, Theresa; Wagner, Matias; Rath, Jakob; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Krenn, Martin:
Videos and Images in Neuropediatrics
Freitas, Leonardo Furtado; Miranda, Eduardo Carvalho; Amaro, Aline Pimentel; Narvaez, Eduardo de Oliveira; Duarte, Márcio Luís:
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome
Zaddach, Malin; Wagner, Johanna; Kunz, Mathias; Paolini, Marco; Borggraefe, Ingo; Heinen, Florian:
在为当今儿科神经学实践提供主要见解方面，本刊是全球首选期刊。它以原创论文、病例报告和专家小组讨论为特色，始终紧跟当前的发展趋势，这也是它发展成为全球公认的专家论坛的原因。
它对儿科医生/神经科医生/神经外科医生和神经生物学家而言是不可或缺的读物。主要特色：
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2.发展、技术和专题研究
3.严谨、独立的同行评审系统
4.国际知名编辑委员会
5.个人订阅者可免费在线访问该期刊
