Popliteal pterygium syndrome Poster No.: C-1816 Congress: ECR 2011 Type: Educational Exhibit Authors: L. B. S. Santos, J. L. D. O. Schiavon, O. O. Guimaraes Neto, 1 1 2 3 1 1 C. A. P. Braga, R. S. LEMOS, R. D. A. M. Nogueira, F. C. 1 1 2 O. Bazzano ; Pouso Alegre/BR, Pouso Alegre - MG, MG/BR, 3 Pouso Alegre, MINAS GERAIS/BR Keywords: Pediatric, Soft tissues / Skin, MR, MR-Angiography, Congenital DOI: 10.1594/ecr2011/C-1816 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. www.myesr.org Page 1 of 12
Learning objectives To relate a diagnosed case of Popliteal Pterygium Syndrome (PPS) in our hospital e to review this rare disease using MR images. Background Case report of a 7 months-child, female, diagnosed with gingival malformation, posterior cleft palate and genitalia hypoplasia. Referred to our institution for investigation of radiological deformity and restriction of extension of the lower limbs in order to perform corrective surgery. PPS is a rare autosomal dominant disease that affects around 1:300.000 newborns. Is an abnormal fibrous tissue in the popliteal region which typically connects the ischium and the calcaneus associated with a number of malformations. May be unilateral or bilateral (usually asymmetrical). The main abnormalities associated with the PPS are facial (cleft palate, cleft lip and fibrous bands in the mouth), genitourinary tract (cryptorchidism, ambiguous genitalia, hypoplasia) and skeletal (syndactyly, deformities, scoliosis). May be linked to other syndromes (trisomy of 13 or 21, and Turner). The popliteal artery and nerve branches are often abnormal in position, adjacent or in pterygium, and therefore the assessment of the position of these structures is necessary to prevent damage during surgery. Imaging findings OR Procedure details For the proper management of this syndrome MR angio-mri can be used. The main findings were arterial system topic, with a small nervous portion in pterygium without impediments for the surgical correction. Images for this section: Page 2 of 12
Fig. 1: 3D reconstruction Page 3 of 12
Fig. 2: Right lower limb Page 4 of 12
Fig. 3: Rigth lower limb Page 5 of 12
Fig. 4: Rigth lower limb Page 6 of 12
Fig. 5: Rigth lower limb Page 7 of 12
Fig. 6: Left lower limb Page 8 of 12
Fig. 7: Left lower limb Page 9 of 12
Fig. 8: Left lower limb Page 10 of 12
Fig. 9: Angio-MRI Fig. 10: Angio-MRI Page 11 of 12
Conclusion The PPS results in deformity and always requires surgical repair. The radiological diagnosis is essential in the preoperative study and different methods of image should be used. Personal Information References DONNELLY LF; EMERY KH; DO TT. MR Imaging of Popliteal Pterygium Syndrome in Pediatric Patientes. AJR 2002:1281-1284. LEES MM;WINTWE RM; MALCOLM S.; et al. Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van de Wouse Syndrome locus on 1q 32. Journal of medical genetics 1999:888-892. Page 12 of 12