Late Diagnosed Hirschsprung Disease: A Case Report

Abstract

Hirschsprung Disease (HD) is mainly a diagnosis of the neonatal period. It is mostly suspected within the first few days of life, the classical telltale sign is an infant not passing meconium. Paediatricians continue to encounter cases of late diagnosed HD. A late diagnosis of Hirschsprung poses an unnecessary burden and suffering on the child and family and increases the likelihood of long-term health complications for the patient. Hirschsprung-Associated Enterocolitis (HAEC) is one of the acute serious complications of late diagnosed HD. It is the leading cause of morbidity and is responsible for half of the deaths associated with Hirschsprung disease. Hence, HAEC should be kept in mind as a probable diagnosis by evaluating physicians particularly when making assessments for a child with possible necrotising enterocolitis or distal bowel obstruction with loose stools. This case report highlights the importance of keeping HD on the differential diagnosis of an ill-appearing child presenting with growth faltering below growth curve for age and in settings of chronic constipation. The patient discussed in this case evolved from an admission due to poor weight gain and fever to concerns for paediatric surgery evaluation. Her symptoms progressed to include not just clinical changes, but also physical examination reflected worsening abdominal exams. Patient underwent biopsy which showed aganglionic bowel segment which resulted in surgical resection. Patient had complete recovery without major complications at two weeks postsurgery.

Keywords

• abdominal distention
• constipation
• poor weight gain