A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy. Focal paroxysmal temporal spikes, at times multifocal, occurred in sleep in one non-epileptic and four epileptic patients with mental retardation and fragile-X syndrome, but not in subjects with mental retardation, with or without epilepsy but without the fragile-X chromosome. [1]
COMMENT. The authors believe that epilepsy must be considered an important clinical feature of fragile-X syndrome, occurring in an average of 26% of reported cases. Karyotyping is advised in mentally retarded patients with epilepsy, even in those without typical clinical features or positive family history and especially in children who frequently lack the characteristic facial dysmorphisms and macro-orchidism (see Ped Neur Briefs 1987;1:41).