Síndrome cerebrohepatorrenal de Zellweger: Una enfermedad peroxisomal

Abstract

An infent with croneofacia dysmorphia, hepatomegaly, kidney cysts and severe neurological dysfunction is repoted. No abnoromolities were detected on either serum ominoacid, lactic acid and ammonic levels or urinary aminoacid excretion, but accumulation of very ,onc chain fatty ac'ds, abnormol suocellular distribution of the peroxisomal enzyme catalase and oeroxisomal grasts were found in cultured fibroblasts. These clinical and laboretory fincings support the diagnosis of Zellweger (cerebrohepatorenal) syndrone, o peroxisomal disease.