Neonatal Medicine

  • 제25권3호
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  • Pages.126-130
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  • 2018
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  • 2287-9412(pISSN)
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  • 2287-9803(eISSN)
대한신생아학회 (The Korean Society of Neonatology)
권호 표지
DOI QR코드

DOI QR Code

RASA1-Related Parkes Weber Syndrome in a Neonate

  • Koh, Hong Ryul (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Lee, Yeon Kyung (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Ko, Sun Young (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Shin, Son Moon (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Han, Byoung-Hee (Department of Radiology, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine)
  • 투고 : 2018.05.31
  • 심사 : 2018.07.30
  • 발행 : 2018.08.31
⟨ 이전 논문 다음 논문 ⟩

초록

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

키워드

참고문헌

  1. Parkes Weber F. Angioma: formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1907;19;231-5.
  2. Maguiness SM, Liang MG. Management of capillary malformations. Clin Plast Surg 2011;38:65-73. https://doi.org/10.1016/j.cps.2010.08.010
  3. Nozaki T, Nosaka S, Miyazaki O, Makidono A, Yamamoto A, Niwa T, et al. Syndromes associated with vascular tumors and malformations: a pictorial review. Radiographics 2013;33:175-95. https://doi.org/10.1148/rg.331125052
  4. Enjolras O, Chapot R, Merland JJ. Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B 2004;13:349-57. https://doi.org/10.1097/01202412-200411000-00001
  5. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73:1240-9. https://doi.org/10.1086/379793
  6. Gloviczki P, Duncan A, Kalra M, Oderich G, Ricotta J, Bower T, et al. Vascular malformations: an update. Perspect Vasc Surg Endovasc Ther 2009;21:133-48. https://doi.org/10.1177/1531003509343019
  7. Adekanmi AJ, Schernthaner RE, Lammer J. Parkes Weber syndrome: a rare vascular malformation-imaging and the usefulness of intravascular intervention. Internet J Radiol 2015;18:1-7. https://doi.org/10.5580/IJRA.24813.
  8. Hershkovitz D, Bergman R, Sprecher E. A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res 2008;300:385-8. https://doi.org/10.1007/s00403-008-0842-5
  9. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008;29: 959-65. https://doi.org/10.1002/humu.20746
  10. Behr GG, Liberman L, Compton J, Garzon MC, Morel KD, Lauren CT, et al. CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy. Vasc Cell 2012;4:19. https://doi.org/10.1186/2045-824X-4-19
  11. Banzic I, Brankovic M, Maksimovic Z, Davidovic L, Markovic M, Rancic Z. Parkes Weber syndrome-diagnostic and management paradigms: a systematic review. Phlebology 2017;32:371-83. https://doi.org/10.1177/0268355516664212
  12. Ziyeh S, Spreer J, Rossler J, Strecker R, Hochmuth A, Schumacher M, et al. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol 2004;14:2025-9. https://doi.org/10.1007/s00330-004-2274-8
  13. Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. Radiologic manifestations of Proteus syndrome. Radiographics 2004;24:1051-68. https://doi.org/10.1148/rg.244035726
  14. Paltiel HJ, Burrows PE, Kozakewich HP, Zurakowski D, Mulliken JB. Soft-tissue vascular anomalies: utility of US for diagnosis. Radiology 2000;214:747-54. https://doi.org/10.1148/radiology.214.3.r00mr21747
  15. Lobo-Mueller E, Amaral JG, Babyn PS, Wang Q, John P. Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children. Semin Musculoskelet Radiol 2009;13:255-76. https://doi.org/10.1055/s-0029-1237692
  16. Kulkarni SV, Gish G, van der Geer P, Henkemeyer M, Pawson T. Role of p120 Ras-GAP in directed cell movement. J Cell Biol 2000;149:457-70. https://doi.org/10.1083/jcb.149.2.457
  17. Triana P, Dore M, Cerezo VN, Cervantes M, Sanchez AV, Ferrero MM, et al. Sirolimus in the treatment of vascular anomalies. Eur J Pediatr Surg 2017;27:86-90.

피인용 문헌

  1. A giant arteriovenous malformation and fistula in a newborn with Parkes Weber syndrome. Case report vol.27, pp.2, 2020, https://doi.org/10.15388/amed.2020.27.2.7
  2. Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers vol.8, pp.None, 2021, https://doi.org/10.3389/fmed.2021.647412