‘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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Journal
Journal of Neonatal-Perinatal Medicine
Published
2025-06-17
DOI
https://doi.org/10.1177/19345798251349420
Primary Topic
Esophageal and GI Pathology
Type
article
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article

‘VACTERL-H in newborn: A rare case report’

Walid Alhussin, Fathima Sabahath
Journal of Neonatal-Perinatal Medicine
Esophageal and GI Pathology
article

‘VACTERL-H in newborn: A rare case report’

Walid Alhussin, Fathima Sabahath
article en

Abstract

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.

Journal of Neonatal-Perinatal MedicineVol. 18(5)
Farwaniya Hospital (KW)
Good health and well-being
Openalex Percentile: Top 76%
Esophageal and GI Pathology
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‘VACTERL-H in newborn: A rare case report’ — Walid Alhussin, Fathima Sabahath · Journal of Neonatal-Perinatal Medicine (2025) | TGRS Research Map | TGRS