Muscle Eye Brain Disease - a Case Report of Cognitive and Behavioural Features

Muscle-Eye-Brain disease (MEB) is a disorder with an autosomal recessive inheritance characterised by congenital muscle dystrophy, eye and brain abnormalities (Cormand et al., 1999). The onset is usually in the first 6 months of life. MEB presents with marked delay in development resulting in severe or profound learning disability, epilepsy, hypotonia and muscular contractures. A high prominent forehead, protruding eyes and narrow temporal regions has been described as typical facial appearance of the disease (Santavouri et al., 1978). Until 2001, only 30 MEB patients were described worldwide, the majority of them from Finland (Fahnehjelm et al., 2001). Apart from the mention of severe or profound learning disability, there is no information on cognitive or behaviour phenotype of this rare disorder.