[Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA)--case report and review of the literature].

Sanfilippo syndrome is one of mucopolysaccharidoses. The main symptom of this syndrome is regression of psychomotor development and neurological signs which occur between 2 and 6 years old. Unlike other mucopolysaccharidoses body dysmorfic features are relatively rare. Course of disease is progressive, most of the patients die before 20. The diagnosis is often difficult. In our opinion in each case presenting psychomotor regression of unknown origin metabolic disease should be excluded (e.g. urine analysis for mucopolysaccharides should be indicated). A 6 year old boy has been under psychiatric and psychological control since he was 3 due to psychomotor retardation, hyperactivity, autistic features, and behavioural disorder. In paediatric examination thickened facial features, coarse hair, knock-knees, short neck were noted. Genetic consultation set up the diagnosis of mucopolysaccharidosis type IIIA (Sanfilippo A disease).