Lesch-Nyhan syndrome: the differential diagnosis and actual aspects

The paper presents a case of a nine-year-old boy with Lesch-Nyhan syndrome whose disease was characterized by: a) clinical presentation (psychomotor retardation, involuntary movements, self-mutilatory behavior) b) biochemical features (increased levels of uric acid in serum and urine, index uric acid/creatinine) c) typical diagnostic ommision that lasted up to the terminal stage of the disease In order to provide the possibility of better diagnosis (which includes possibilities of genetic consulting, antenatal diagnosis and treatment of the disorder which is extremely unpleasant both to the patient and to his family) the most common diagnostic errors are discussed. Since the biochemical deficit is the only one which produces the occurrence of Lesch-Nyhan syndrome, the disease is commonly used as a model for investigations of the biochemical basis of human behavior.