Two newborn case reports diagnosed as Walker Warburg syndrome Walker Warburg sendromu: Iki yenidoğan olgusu

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AKTAS S., Karakurt T. L., AYDIN K., Önal E.

Medeniyet Medical Journal, cilt.33, sa.4, ss.346-351, 2018 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.5222/mmj.2018.45556
  • Dergi Adı: Medeniyet Medical Journal
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.346-351
  • Anahtar Kelimeler: Congenital muscular dystrophy, Newborn, Walker Warburg Syndrome
  • İstanbul Medipol Üniversitesi Adresli: Evet

Özet

Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies. In this report two cases who had history of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented. The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheritance of WWS.