Colon atresia and frontal encephalocele: a rare association

https://doi.org/10.1016/j.jpedsurg.2011.09.046Get rights and content

Abstract

The association of colonic atresia with craniofacial anomalies has been well described and probably represents a malformative event that occurs in the early embryonal period. We present a case of an infant with colonic atresia and a frontal encephalocele and believe this to be a newly reported association. We review possible pathogenic mechanisms.

Section snippets

Case report

A 2.7-kg term male neonate was born at 38 weeks gestation. The pregnancy had been normal, and there was no history of varicella exposure or other infections. Abdominal distension, bile vomiting, the absence of meconium in a rectal washout and dilated bowel loops prompted a contrast enema, which showed a microcolon with cessation of filling in the left upper quadrant (Fig. 1).

At laparotomy, a type III cecal atresia was found. The remainder of the ascending colon and the transverse colon were

Discussion

The theory of an embryologic vascular insult resulting in intestinal atresia is certainly attractive and has been reproduced in animal models [13], [14]. However, it fails to provide an etiological mechanism for the frequent association of CA with other congenital anomalies, both intestinal and extraintestinal anomalies [2]. It is possible, therefore, that the pathogenesis of CA could have more than 1 mechanism, accounting for the variety of phenotypes [15], [16]. The studies of Puri and

References (32)

  • T.J. Fairbanks et al.

    The fibroblast growth factor pathway serves a regulatory role in proliferation and apoptosis in the pathogenesis of intestinal atresia

    J Pediatr Surg

    (2006)
  • F.M. Akgur et al.

    Colonic atresia and Hirschsprung's disease association shows further evidence for migration of enteric neurons

    J Pediatr Surg

    (1993)
  • R. Hitchcock et al.

    Colonic atresia and spinal cord atrophy associated with a case of fetal varicella syndrome

    J Pediatr Surg

    (1995)
  • M. Davenport et al.

    Colonic atresia: current results of treatment

    J R Coll Edinb

    (1990)
  • A.I. Philippart

    Atresia, stenosis and other obstructions of the colon

  • E.Q. Haxhija et al.

    Management of isolated and associated colonic atresia

    Pediatr Surg Int

    (2011)
  • Cited by (2)

    • Colonic stenosis in infant with connective tissue disorder

      2013, Journal of Pediatric Surgery Case Reports
      Citation Excerpt :

      Colonic atresia has been associated with abnormalities of the musculoskeletal system (syndactyly, polydactyly, clubfoot, absent radius, absent hand, heart), as well as craniofacial anomalies (facial hemiaplasia, anophthalmia) [9–12]. This has led to the speculation that although a vascular insult may explain many cases of colonic atresia, another mechanism such as an early embryonal disruption may lead to the phenotype with a variety of anomalies [11–13]. The present case may also support this theory of a common genetic origin as responsible for this constellation of anomalies.

    View full text