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

Abstract

Background

VACTERL 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 description

This report describes the case of a preterm 32 weeks gestation, Asian, male infant who was diagnosed with VACTERL associated with hydrocephalus (VACTERL-H).

Conclusion

VACTERL 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.