Catalog

Infantile Refsum disease

No MMS code

Link to WHO Definition

Infantile Refsum disease – http://id.who.int/icd/entity/745921582

The infantile form of Refsum disease belongs to the group of peroxisomal diseases, a subset of the leukodystrophic diseases. Clinical signs appear at birth, frequently with retinitis pigmentosa often leading to blindness, and with severe hearing loss, associated with cerebellar ataxia, nystagmus, hypotonia, growth retardation, intellectual deficit, mild facial dysmorphism, osteoporosis, hepatomegaly and hypocholesterolaemia.