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

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

Appropriateness of pediatric hospitalization in a general hospital in Kuwait

To determine the rate of inappropriate pediatric admissions using the Pediatric Appropriateness Evaluation Protocol [PAEP] and to examine variables associated with inappropriateness of admissions. A prospective study was conducted in the Department of Pediatrics, Farwania General Hospital, Kuwait, to examine successive admissions for appropriateness of admission as well as several sociodemographic characteristics over a 5-month period [August 2010 to December 2010]. A total of 1,022 admissions were included. Of the 1,022 admissions, 416 [40.7%] were considered inappropriate. Factors associated with a higher rate of inappropriate admission included older age of patients and self-referral. The rate of inappropriate hospitalization of children was high in Farwania Hospital, Kuwait, probably due to the relatively free health care services, parental preference for hospital care, easy access to hospital services, and insufficient education about the child's condition