Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case

Surg Today. 2013 Dec;43(12):1467-9. doi: 10.1007/s00595-012-0355-x. Epub 2012 Oct 5.

Abstract

An 8-year-old male presented with a cystic lung lesion in the left lower lobe, which was initially detected during surgery for a spontaneous rupture of the sigmoid colon at the age of 6 years. Tissue fragility and a tendency to bleed easily were noted during the surgery, which strongly suggested vascular Ehlers-Danlos syndrome. Although there was no abnormality in the hemostasis screening test, or any suspicious hereditary problem in his pedigree, genetic gene testing for vascular Ehlers-Danlos syndrome was recommended, and showed a de novo mutation in the COL3A1 gene. This report presents the case of patient with occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of lung, in addition to a duplicated infrarenal vena cava.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Collagen Type III / genetics
  • Cystic Adenomatoid Malformation of Lung, Congenital / complications
  • Cystic Adenomatoid Malformation of Lung, Congenital / diagnosis*
  • Cystic Adenomatoid Malformation of Lung, Congenital / pathology
  • Cystic Adenomatoid Malformation of Lung, Congenital / surgery*
  • Ehlers-Danlos Syndrome / complications
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / surgery*
  • Humans
  • Incidental Findings
  • Kidney / blood supply
  • Male
  • Mutation
  • Rupture, Spontaneous
  • Sigmoid Diseases / etiology
  • Sigmoid Diseases / surgery
  • Tomography, X-Ray Computed
  • Vena Cava, Inferior / abnormalities

Substances

  • COL3A1 protein, human
  • Collagen Type III