新生儿VACTERL-H:一例罕见病例报告。

Q2 Medicine
Walid Alhussin, Fathima Sabahath
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引用次数: 0

摘要

vacterl关联是一个易于记忆的首字母缩略词,用于描述一种以多器官系统中偶发性、非随机关联的特定出生缺陷为特征的疾病。在20世纪70年代早期被描述,它通常被定义为存在三种或三种以上的先天性畸形:椎体缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏异常和肢体异常。除了这些核心部件外,患者还可能有其他先天性异常。VACTERL关联不涉及神经认知障碍,除非;与脑积水有关,称为VACTERL-H综合征。VACTERL伴脑积水是一种极为罕见的疾病,男女儿童均受影响。病例描述:本报告描述了一例妊娠32周的亚洲男性婴儿,被诊断为VACTERL伴脑积水(VACTERL- h)。结论vacterl综合征病例少见。VACTERL-H综合征的诊断主要基于完整的体格检查和一些专门的检查来确定该综合征的特征。VACTERL-H的治疗是针对每个人明显的特定症状,这些症状往往差别很大。本病例强调了在早产儿中管理VACTERL- h综合征的挑战,早产儿呈现出最严重的VACTERL特征。因此,需要早期诊断和早期干预,以防止发病率和死亡率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
'VACTERL-H in newborn: A rare case report'.

BackgroundVACTERL association is a mnemonically useful acronym for a condition characterized by the sporadic, non-random association of specific birth defects in multiple organ systems. Described in the early 1970s, it is typically defined by the presence of three or more of these congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistulas, renal anomalies, and limb abnormalities. In addition to these core components, patients may also have other congenital anomalies. VACTERL association does not involve neuro-cognitive impairment unless; associated with hydrocephalus, known as VACTERL-H syndrome. VACTERL with hydrocephalus is an extremely rare disorder that affects males and females' children equally.Case descriptionThis report describes the case of a preterm 32 weeks gestation, Asian, male infant who was diagnosed with VACTERL associated with hydrocephalus (VACTERL-H).ConclusionVACTERL syndrome cases are seen very rarely. The diagnosis of VACTERL-H syndrome is primarily based upon a complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often vary greatly. This case highlights the challenges in managing VACTERL-H syndrome in preterm, who presented with the most serious features of VACTERL. Hence, early diagnosis and early interventions are needed to prevent morbidity and mortality.

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来源期刊
Journal of neonatal-perinatal medicine
Journal of neonatal-perinatal medicine Medicine-Pediatrics, Perinatology and Child Health
CiteScore
2.00
自引率
0.00%
发文量
124
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