首例叙利亚患者尾椎退缩综合征病例报告,临床表现不寻常

Mayssane Jari, Pia Kiwan, R. Sacy
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摘要

骶骨、腰椎和胸椎无椎体是一种先天性畸形,与其他复杂的遗传综合征有关。骶骨无椎体症是指下部椎体部分或全部缺失,可单独发生,也可与脊髓异常等其他综合征(如 VACTREL 综合征和 Currarino 三联征)同时发生1。通常,骶骨发育不全的患儿都有畸形特征;值得注意的是,约有 20% 的病例在 3-4 岁时才被发现,而且很多都是在如厕训练失败后才被诊断出来的。最罕见的先天性疾病之一是 "尾椎退缩综合征",它影响脊柱远端节段,并导致脊髓发育后遗症。这种综合征在普通人群中的发病率很低,其特征是下肢畸形,感觉和运动功能丧失,同时伴有神经源性膀胱,但智力保持不变。确切的病因尚不明确,但与母体糖尿病有明显的关系。此外,真正的病因尚不清楚,一些理论认为遗传因素、低灌注和致畸因子在该综合征的发病机制中起着重要作用。治疗方法主要是支持性治疗和多学科治疗。产前影像学检查可确保检测和诊断的一致性。新生儿期所需的体格检查和诊断测试有助于发现可能的并发症并确定预后。我们介绍了一个确诊为尾椎退缩综合征的女孩的临床病例,并描述了该患者的检查和处理方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
First case report of caudal regression syndrome in a Syrian patient with unusual clinical presentation
Agenesis of the sacrum, lumbar and thoracic vertebrae, is a congenital malformation, associated with other complex genetic syndromes. Sacral agenesis is the partial, or total absence of lower vertebral bodies, can occur isolated or in association with other syndromes including spinal cord anomaly such as (VACTREL syndrome, and Currarino triad).1 The incidence of sacral agenesis is 1/50 000 in general population but is 200 times more frequent in infants of diabetic mothers.2 Usually, children with sacral agenesis have dysmorphic features; to note that around 20% of the cases are undetected until the age of 3- 4 years old and many are diagnosed after unsuccessful toilet training. One of the rarest congenital disorders is “Caudal regression syndrome” that affects the distal spinal segments and result in sequelae on the development of the spinal cord. This syndrome has a low incidence in general population, it is characterized by lower limbs deformities with sensory and motor loss, along with neurogenic bladder however, intelligence is conserved. The exact etiology is vague, yet there is an obvious relation with maternal diabetes. Also, the true cause is still unknown, some theories, state the role of genetic factors, hypoperfusion, and teratogens in the pathogenesis of this syndrome. Treatment is mostly supportive, and multidisciplinary. Prenatal imaging studies allow for consistent detection and diagnosis. The physical exam and the diagnostic test required in the newborn period help in the detection of probable complications and establishing a prognosis. We present a clinical case of a girl with a diagnosis of Caudal regression syndrome, describing the workup and management of this patient.
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