ON THE CASE OF AN ORPHAN DISEASE ? RETT SYNDROME IN PEDIATRIC PRACTICE

The development of biochemical and genetic examination techniques made it possible to diagnose orphan diseases. This article describes the case of a rare genetic disorder associated with alteration of muscle tone and regression of all forms of psychiatric activity accompanied by motor stereotypies and convulsive seizures. Up to the age of three years this patient was watched and treated according to the diagnosis of sequelae of perinatal CNS affection. Patients with abovementioned complaints should be timely referred for genetic counselling.