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

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.