Rett syndrome: study of 5 tunisian cases.

We report 5 girls presenting Rett syndrome. All of them were from south Tun isia. They fulfilled the Rett syndrome diagnosis criteria (The Rett syndrom e diagnosis criteria work group, 1988). Pregnancy, birth and psychomotor de velopment during the first year of live were normal. The mean age at the on set was 19.8+/-2.5 months. The two revealing symptoms were psychomotor regr ession (3 cases) and epilepsy (2 cases). They were admitted to our ward at a mean age of 4.7+/-1.5 years. Clinical presentation was typical of Rett sy ndrome. Mental retardation, stereotypic hand movement (hand washing/wringin g or clapping/tapping) and loss of purposeful manual skills were noted in a il cases. Gait was apraxic and increase of head circumference was slowed. A dditional features included: respiratory dysfunction (episodic hyperventila tion and breath-holding), epilepsy, scoliosis (4 cases), growth retardation and spasticity (3 cases). Electroencephalography showed slow activity with multifocal epileptiform abnormalities. Sleep enhanced these EEG abnormalit ies. MRI and CT-scan disclosed non specific cortical and sub-cortical atrop hy. AII cases were isolated and parents were consanguineous in 3 cases. Ret t syndrome is relatively frequent in Europe, but in Tunisia this disease re mains rare and certainly underdiagnosed.