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

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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.

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Authors and Affiliations

  1. Department of Thoracic and Cardiovascular Surgery, St. Paul Hospital, The Catholic University of Korea, 620-56 Jeonnong-dong, Dongdaemun-ku, Seoul, 130-709, South Korea

    Young Jo Sa, Young Du Kim, Seok-Whan Moon & Chi-Kyung Kim

  2. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

    Chang Seok Ki

Authors
  1. Young Jo Sa
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  2. Young Du Kim
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  3. Seok-Whan Moon
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  4. Chi-Kyung Kim
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  5. Chang Seok Ki
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Correspondence to Seok-Whan Moon.

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Sa, Y.J., Kim, Y.D., Moon, SW. et al. Occlusive vascular Ehlers–Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case. Surg Today 43, 1467–1469 (2013). https://doi.org/10.1007/s00595-012-0355-x

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  • DOI: https://doi.org/10.1007/s00595-012-0355-x

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