Prenatal diagnosis of Klippel–Trenaunay–Weber syndrome with Kasabach–Merritt syndrome in utero

详细信息    查看全文

• 作者：Kei Tanaka ; Noriko Miyazaki ; Miho Matsushima…
• 关键词：Klippel–Trenaunay–Weber syndrome ; Kasabach–Merritt syndrome ; Ultrasound ; Prenatal diagnosis ; Fetal hydrops
• 刊名：Journal of Medical Ultrasonics
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：42
• 期：1
• 页码：109-112
• 全文大小：476 KB
• 参考文献：1. Mari G, Deter RL, Carpenter RL, et al. Noninvasive diagnosis by Doppler ultrasonography of fetal anemia due to maternal red-cell alloimmunization. Collaborative Group for Doppler Assessment of the Vlood Velocity in Anemic Fetuses. N Engl J Med. 2000;342:9-4. CrossRef
  2. Klippel M, Trenaunay P. Du noevus variqueux osteo-hypertrhophiques. Arch Gen Med. 1900;185:641-2.
  3. Weber FP. Hemangioectatic hypertrophy of limbs. Congenital phlebarteriectasia and so-called congenital varicose veins. Br J Child Dis. 1918;15:13-.
  4. Hatjis CG, Philip AG, Anderson GG, et al. The in utero ultrasonographic appearance of Klippel–Trenaunay–Weber syndrome. Am J Obstet Gynecol. 1981;139:972-.
  5. Heydanus R, Wladimoroff JW, Branden H, et al. Prenatal diagnosis of Klippel–Trenaunay–Weber syndrome : a case report. Ultrasound Obstet Gynecol. 1992;2:360-. CrossRef
  6. Roberts RV, Dickinson JE, Hugo PJ, et al. Prenatal sonographic appearances of Klippel–Trenaunay–Weber syndrome. Prenat Diag. 1999;19:369-1. CrossRef
  7. Kasabach HH, Merritt KK. Capillary hemangioma with extensive purpura—report of a case. Amer J Dis Child. 1940;59:1063-0. CrossRef
  8. Anai T, Miyakawa I, Ohki H, et al. Hydrops fetalis caused by fetal Kasabach–Merritt syndrome. Acta Paediatr Jpn. 1992;34:324-. CrossRef
  9. Gembruch U, Baschat AA, Gloeckner-Hoffmann K, et al. Prenatal diagnosis of fetus with liver hemangiomata. Ultrasound Obstet Gynecol. 2002;19:454-0. CrossRef
  10. Respondek-Liberska M, Janiak K, Jakubek A, et al. Prenatal diagnosis of fetal face hemangioma in a case of Kasabach- Merritt syndrome. Ultrasound Obstet Gynecol. 2002;19:627-. CrossRef
  11. Tsukimori K, Hojo S, Kawarabayashi Y, et al. Fetal neck capillary hemangioma associated with Kasabach–Merritt syndrome. J Ultrasound Med. 2007;26:397-01.
  12. Mor Z, Schreyer P, Wainraub Z, et al. Non-immune hydrops fetalis associated with angio-osteohypertrophy (Klippel–Trenaunay) syndrome. Am J Obstet Gynecol. 1988;159:1185-. CrossRef
  13. Christenson L, Yankowitz J, Robinson R. Prenatal diagnosis of Klippel–Trenaunay–Weber syndrome as a cause for in utero heart failure and severe postnatal sequlae. Prenatal Diagn. 1997;17:1176-0. CrossRef
  14. Zoppi MA, Ibba RM, Floris M, et al. Prenatal sonographic diagnosis of Klippel–Trenaunay–Weber syndrome with cardiac failure. J Clin Ultrasound. 2001;29:422-. CrossRef
  15. Samuel M, Spitz L. Klippel–Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. 1995;82:757-1. CrossRef
  
• 刊物主题：Ultrasound; Imaging / Radiology;
• 出版者：Springer Japan
• ISSN：1613-2254

文摘

Klippel-Trenaunay-Weber syndrome (KTWS), a congenital disease characterized by cutaneous hemangiomas, soft tissue and bone hypertrophy, and occasionally arteriovenous malformations, is extremely rare and its natural history in utero is unknown. We present a prenatally diagnosed case of KTWS complicated with Kasabach-Merritt syndrome in utero and fetal hydrops from acute anemia. The fetus was diagnosed with KTWS at 24?weeks of gestation based on the ultrasound findings of hemangiomas and unilateral hypertrophy of the lower extremity. Acute enlargement of the hemangiomas and the appearance of new retroperitoneal hemangiomas were detected at 27?weeks, along with skin edema and cardiomegaly. Doppler examination showed elevated peak systolic velocity in the middle cerebral artery, indicating acute fetal anemia. We believe the fetus’s condition was complicated with Kasabach-Merritt syndrome in utero, which caused acute hemolytic anemia leading to high-output cardiac failure and fetal hydrops.