骶骨发育不全。

IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY
Pediatric neurology Pub Date : 2025-02-01 Epub Date: 2024-11-05 DOI:10.1016/j.pediatrneurol.2024.10.020
Monserrat Sánchez-Romero, Libia Tlaxcala-Castillo, Pavel Salvador Pichardo-Rojas, Marco-Antonio Valencia-Melo, Ángel-Antonio Paz-López, Fabián Sánchez-Sagastegui, Talia Wegman-Ostrosky
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引用次数: 0

摘要

骶骨发育不全是一种罕见的先天性神经系统疾病,其特征是骶骨脊柱发育不全。本文综述了SA的发病机制、流行病学、危险因素、遗传学、临床表现、放射学分类、诊断和治疗等方面的文献。这项工作的目的是提供最新的和全面的医学叙事文献综述这种罕见的先天性疾病。这篇叙述性综述使用了PubMed、MEDLINE、Science Direct和Embase数据库。在2022年12月至2023年9月期间,以下术语被用于纳入原创文章:“罕见疾病”、“尾椎退化”、“糖尿病胚胎病”和“骶骨发育不全”。国际骶骨发育/尾侧退化协会代表这些患者参与了审稿并起草了一段文字。SA的临床表现是异质性的。最常见的表现包括周围神经、运动、泌尿和消化问题。预后取决于严重程度和相关异常。患者通常表现出正常的心理功能,但需要多学科的评估和很大程度上的支持性治疗,使他们能够过上成功的生活。需要更多的认识和研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sacral Agenesis.

Sacral agenesis (SA) is a rare congenital neurological disorder characterized by the incomplete development of the sacral spine. This work summarizes the scientific literature on SA, including the following sections: pathogenesis, epidemiology, risk factors, genetics, clinical manifestations, radiological classification, diagnosis, and management. The aim of this work is to provide the most up-to-date and comprehensive medical narrative literature review for this rare congenital disease. This narrative review used PubMed, MEDLINE, Science Direct, and Embase databases. Between December 2022 and September 2023, the following terms were used for the inclusion of original articles: "rare disease," "caudal regression," "diabetic embryopathy," and "sacral agenesis.? The International Sacral Agenesis/Caudal Regression Association participated in reviewing this manuscript and drafting a paragraph on behalf of those living with this condition. The clinical manifestations of SA are heterogeneous. The most prevalent manifestations involve peripheral neurological, motor, urinary, and digestive issues. The prognosis depends on the severity and associated abnormalities. Patients usually exhibit normal mental function but require a multidisciplinary evaluation and largely supportive treatment that enables them to live successful lives. More awareness and research are needed.

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来源期刊
Pediatric neurology
Pediatric neurology 医学-临床神经学
CiteScore
4.80
自引率
2.60%
发文量
176
审稿时长
78 days
期刊介绍: Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.
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