PEROXISOMAL BIFUNCTIONAL ENZYME COMPLEX DEFICIENCY WITH ASSOCIATED RETINAL FINDINGS

Peroxisomal bifunctional enzyme complex deficiency is a recently recog nized abnormality of fatty acid metabolism. We herein present the asso ciation of a flecked retina with peroxisomal bifunctional enzyme defic iency, a clinical association not previously reported. We suggest the finding of a flecked retina in an infant presenting with hypotonia, se izures, and failure to thrive is highly suggestive of this diagnosis.