Symptoms of a peroxisomal disorder

It is often believed that a peroxisomal patient has a peculiar face. In particular, a small, flat face when looking from one side is quite characteristic. The eyes are slanted, with internal folds (epicanthus). The nose is small and the ears are low-set. However, these signs are not always clear and many diagnoses are lost for not detecting the facial signs described in books. A high forehead, with frontal bossing, and above all, a widely open anterior fontanel, are virtually constant and easy to find signs. More or less severe hypotonia (floppiness) is a constant sign. Mental and motor developments are always retarded. Vision and hearing are always deficient. So, if the pediatrician finds some of these signs and liver enlargement (hepatomegaly) at the examination there is enough reason to think of a peroxisomal disorder and do the screening for the disease.