Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers–Danlos Syndrome

Patients with vascular Ehlers–Danlos syndrome (vEDS) have a defect in the formation of type III collagen. This defect puts patients at risk of vascular rupture, uterine rupture, and bowel perforations. The segmental absence of intestinal musculature is a rare histopathologic finding, wherein there is a lack of a muscularis propria layer in the intestinal wall. Although typically documented in the literature in neonates or adults, it can be seen in children of other ages. This is a case report of a patient who exhibits both rare entities, which has not been described in the literature to date.

Segmental absence of intestinal musculature in an extremely low birthweight preterm infant

Background The segmental absence of intestinal musculature is a rare clinical entity, usually manifested in the neonatal period. It is more frequent in preterm infants, particularly in very low birthweight infants. Typically, there are intestinal perforation or intestinal obstruction symptoms. Case presentation The authors report a case of a 30-week-gestational age extremely low birthweight newborn who presented, on the fourth day of life, with a progressively acute abdomen and radiological findings suggestive of intestinal perforation. An emergency laparotomy with segmental ileal resection was performed; intestinal perforation was not confirmed. The histopathological examination of the resected distended bowel revealed an area of severe hypoplastic muscularis propria (with remaining layers intact). Conclusion Preoperative diagnosis of segmental absence of intestinal musculature is extremely difficult; its definitive diagnosis relies solely on the histopathological examination. The clinicians and pathologists should be aware of this rare condition, the treatment and prognosis of which differs from the more common necrotising enterocolitis.