Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.
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.
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
YJ
Sa
Young Du
YD
Kim
Seok-Whan
SW
Moon
Chi-Kyung
CK
Kim
Chang Seok
CS
Ki
D002648:Child; D024061:Collagen Type III / Q000235:genetics; D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery*; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D006801:Humans; D033162:Incidental Findings; D007668:Kidney / Q000098:blood supply; D008297:Male; D009154:Mutation; D012422:Rupture, Spontaneous; D012810:Sigmoid Diseases / Q000209:etiology / Q000601:surgery; D014057:Tomography, X-Ray Computed; D014682:Vena Cava, Inferior / Q000002:abnormalities
C439971:COL3A1 protein, human; D024061:Collagen Type III