A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1

Li, Yue; Liu, Peiqi; Wang, Weilin; Jia, Huimin; Bai, Yuzuo; Yuan, Zhengwei; Yang, Zhonghua

doi:10.1038/s41390-023-02928-0

Cited by 1 publication

(2 citation statements)

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“…Therefore, it is necessary to make the diagnosis prenatally with ultrasound identification of these anomalies. The range of morbidity and mortality depends on the complications of the postoperative period and renal failure, which may occur in these patients [8,9,10,11].…”

Section: Discussionmentioning

confidence: 99%

“…Its occurrence is sporadic although the appearance of several cases in a family suggests an inheritance of an autosomal nature, as are cases of VACTERL with hydrocephalus, which follow a pattern of autosomal recessive inheritance [9]. A new discovery indicates that a copy number variation (CNV) contributes to VACTERL pathogenicity, identifying a novel CNV in 8p23 and 12q23.1 in a case of anorectal malformations (ARMs)-related VACTERL association [10]. DNA methylation disturbances in the ovum are a likely cause, with epigenetic links to individual components and to folate effects before conception, explaining diverse fetal and placental findings and providing a link to fetal origin hypothesis-related effects [11].…”

Section: Introductionmentioning

confidence: 99%

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Endoscopic Ventriculocysternostomy, Magendie Foraminoplasty, and Plexusectomy With Craniovertebral Shunt Placement in a Pediatric Patient With Hydrocephalus and VACTERL Association: A Novel Treatment Option

Asadov,

Bernard,

Enelis

2024

Cureus

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Endoscopic third ventriculocysternostomy (ETV) is a minimally invasive neurosurgical technique with good results in the treatment of obstructive hydrocephalus. The VACTERL (vertebrae, anorectal, cardiovascular, tracheal, esophageal, renal, limb defects) association, or VATER syndrome, is defined as congenital malformations, mostly derived from the mesoderm, affecting specific areas. It is diagnosed by the presence of at least three of the seven characteristic malformations that describe it. The association of this pathology and obstructive hydrocephalus in pediatric age is not common, making management and conventional neurosurgical procedures difficult due to the number of underlying pathologies. In this study, we report the management of hydrocephalus and VACTERL association with multiple congenital malformations in a 30-day-old premature neonate (birth at 29 weeks). Operations performed prior to admission to our service included: coloesophagoplasty and placement of esophagostoma in the left anterior cervical region, perineal anorectoplasty, gastrostomy and placement of sigmoidostomy in the left anterior abdominal wall, relaparotomy, gastric suture, sanitation, and abdominal drainage. Upon admission, the patient showed a Grade 3 intraventricular hemorrhage and internal occlusive hydrocephalus due to circulatory blockage of the cerebrospinal fluid (CSF) at the level of the outlet of the fourth ventricle. This was accompanied by intracranial hypertension and refractory cervical syringomyelia. We performed endoscopic ventriculocysternostomy plus plexusectomy plus Magendie foraminoplasty with craniovertebral shunt placement, achieving excellent results after two interventions. This is the first case described in the literature placing a craniovertebral shunt using a lateral-ventricle-to-the-subarachnoid-spinal-space-stenting technique in a patient with VACTERL association, which represents an innovation in the field of minimally invasive pediatric neurosurgery.

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Section: Discussionmentioning

confidence: 99%