Niemowlę z opóźnionym rozwojem psychoruchowym i pomarańczowymi kryształkami na pieluszce – opis przypadku zespołu Lescha i Nyhana

Abstract

Lesch-Nyhan syndrome is a rare inborn error of metabolism with very poor prognosis. Patients vary in many ways but all seem to have impairments to some degree in uric acid metabolism, motor development, and behavior. A careful evaluation is essential toward making the appropriate diagnosis. A case of infant with motor delay, spasticity, dystonia, and crystalluria is reported. Treatment based on allopurinal (12mg/kg of body weight/24h) reduced serum hyperuricemia to values<7mg/dl.