The Walker-Warburg syndrome is an autosomal recessive disease characterized by type 2 lissencephaly, cerebellar malformations, retinal abnormalities and congenital muscular dystrophy with most children dying before the age of three. In this report, we represent a patient diagnosed as Walker-Warburg syndrome with feeding difficulty, generalized hypotonia, facial dysmorphic features, eye and brain abnormalities and also elevated creatine kinase level. The parents were first degree relatives. The diagnosis of this rare disease is important in hypotonic infants for genetic counseling of families, as it is lethal and inherited in an autosomal recessive manner.

Keywords: Hypotonia, Congenital, Muscular dystrophy, Walker-Warburg