Shah-Waardenbrug syndrome type IV presenting with long segment Hirschsprung’s disease in a neonate: a case report

Abstract

Shah–Waardenburg syndrome, also known as Waardenburg syndrome type 4, is a rare genetic condition characterized by the combination of pigmentary abnormalities and Hirschsprung disease resulting from neural crest developmental defects. We present a case of a 5-day-old male neonate with dysmorphic features, bilious vomiting, abdominal distension, and failure to pass meconium, later confirmed to have total colonic aganglionosis. Early surgical intervention and histopathological evaluation were essential in confirming the diagnosis and guiding management. A 5-day-old male neonate born at term by normal vaginal delivery at home to a 20-year-old mother with limited antenatal care was referred with refusal to breastfeed since birth and progressive bilious vomiting beginning on the second day of life. The infant had not passed meconium spontaneously. There was no history of similar illness in the family. Shah–Warrensburg syndrome with total colonic aganglionosis is a rare but life-threatening condition that should be suspected in neonates presenting with intestinal obstruction and characteristic dysmorphic features. Early recognition and prompt surgical intervention are crucial to prevent morbidity and mortality. Histopathological confirmation remains the gold standard for diagnosis and guides definitive management. A multidisciplinary approach involving neonatology, pediatric surgery, and genetics is essential for optimal outcomes. Long-term follow-up is required to address surgical, nutritional, and developmental challenges.