Walker-Warburg syndrome features and gene study: a report of two cases

ABSTRACT

Walker-Warburg syndrome [WWS] is a rare autosomal recessive disorder characterized by congenital muscular dystrophy [CMD] and brain and eye abnormalities. Two other diseases have similar features, namely, muscl-eye-brain disease [MED] and Fukuyama congenital muscular dystrophy [FCMD]. The brain abnormalities in WWS are characterized by type 2 cobblestone lissencephaly, hydrocephalus, cerebellar malformations and brain stem anomalies. Mutations in protein O-mannosyltransferase 1 and 2 [POMT1 and POMT2] genes were found in 20% of WWS cases. Other rare mutations were found in Fukutin and Fukutin-related protein [FKRP] genes. We report cases of two Kuwaiti boys with WWS, who had typical brain magnetic resonance imaging [MRI] features. Both were screened for POMT1, POMT2, POMGnT1, FKRP and LARGE gene mutations and were negative. To the best of our knowledge these are the first two cases to be screened for known WWS gene mutations in Kuwait