ABSTRACT

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.