'VACTERL-H in newborn: A rare case report'

Area of Science:

• Pediatrics
• Medical Genetics
• Congenital Disorders

Background:

• VACTERL association is a non-random grouping of congenital malformations affecting multiple organ systems.
• VACTERL-H syndrome is an extremely rare variant characterized by the addition of hydrocephalus.
• The condition typically presents with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistulas, renal anomalies, and limb abnormalities.

Purpose of the Study:

• To report a rare case of VACTERL with hydrocephalus (VACTERL-H) syndrome.
• To highlight the management challenges in a preterm infant with severe VACTERL-H.
• To emphasize the importance of early diagnosis and intervention for VACTERL-H.

Main Methods:

• Case report of a preterm infant diagnosed with VACTERL-H.
• Clinical assessment and diagnostic evaluations for congenital anomalies.
• Management focused on individual symptom presentation.

Main Results:

• A preterm male infant (32 weeks gestation) was diagnosed with VACTERL-H syndrome.
• The infant presented with severe features of VACTERL.
• Management required addressing multiple, complex congenital anomalies.

Conclusions:

• VACTERL-H syndrome is a rare and complex disorder.
• Management of VACTERL-H in preterm infants presents significant challenges.
• Early diagnosis and prompt, individualized interventions are crucial to improve outcomes and reduce mortality in VACTERL-H.