Congenital absence of intestinal smooth muscle: a case report and review of the literature

Herein is reported case of an otherwise healthy full-term infant girl who presented with numerous spontaneous intestinal perforations with congenital absence of intestinal muscularis mucosae and muscularis propria. Few other cases are reported in the English literature with varying presentations. We review those cases, theories of pathogenesis, embryology, and possible connections to various clinical presentations.