Peroxisomal disorders

Abstract

Peroxisomal disorders can be recognised by the presence of dysmorphic features, neurological abnormalities and hepatic and gastrointestinal dysfunction. Widely different features that can occur include: Craniofacial dysmorphism, skeletal abnormalities, shortened proximal limbs, calcific stippling of the epiphyses Encephalopathy, seizures, peripheral neuropathy, abnormal gait, hypotonia Ocular abnormalities such as retinopathy, cataracts Liver disease with hyperbilirubinaemia, hepatomegaly and cholestasis Failure to thrive Possibilities for (dietary) treatment are limited.