Case Report

A Case with Walker-Warburg Syndrome and New Insights

  • Cavidan Nur SEMERCİ
  • Saliha ŞENEL
  • Nurullah OKUMUŞ
  • Beril TALİM
  • Çiğdem ÜNER
  • İlhami GÖKTAŞ
  • Neşe ONAT
  • Sevim BALCI

Received Date: Accepted Date: 27.02.2003 Gulhane Med J 2003;45(2):213-217

Walker-Warburg syndrome is a lethal autosomal recessive disorder characterized by brain, eye and muscle abnormalities. In this paper a case of Walker- Warburg syndrome with of hypotonia, microphthalmia bilateral cataract, immature anterior chamber, congenital muscular dystrophy on muscle biopsy, hydrocephaly, type II lissencephaly, hypoplasia of cerebellar hemispheres and extremly high serum creatinine phosphokinase, is presented. A careful physical examination is emphasized in the diagnosis of associated malformations in newborn infants who have hydrocephalus and the early diagnosis is essential for genetic counseling.

Keywords: Walker-Warburg Syndrome, Hydrocephalus, Congenital Muscular Dystrophy