Segmental absence of intestinal musculature in a newborn: A case report

Abstract

Introduction: Intestinal musculature defects leading to intestinal obstruction and perforation in children are rare and poorly understood. Case presentation: Our case is of a 3-day-old term male infant who was brought to the emergency department with symptoms of bilious emesis and poor feeding, and not having passed meconium. Pre-natal assessment and antenatal assessments did not raise any concerns for serology abnormalities or dysmorphic features, and he had good APGAR scores. The patient had a patent anus with abdominal distension. Initially, a plain abdominal X-ray was suspicious for Hirschsprung's disease due to narrowing of the terminal descending colon. On day 7 of life, he developed spontaneous bowel perforation. A right hemicolectomy was performed on the same day, and subsequent gross pathological assessment demonstrated a focal muscularis propria defect. Histological examination confirmed the presence of ganglion cells, ruling out Hirschsprung's disease. Immunohistochemical stains confirmed the absence of muscularis mucosa in small foci, which lead to a diagnosis of segmental absence of intestinal musculature (SAIM). While a repeat laparotomy was required shortly after due to complications, he is now feeding well and gaining weight appropriately. Conclusion: Segmental absence of intestinal musculature should be included in the differential diagnosis of newborns with symptoms of functional intestinal obstruction in whom Hirschsprung's disease has been ruled out.

Keywords

• Case report
• Intestinal defect
• Musculature
• Obstruction