A Rare Case Report: Mucopoly-Saccharidosis (Hurler Syndrome) With Rachitic Changes In A Nigerian

An unusual presentation of mucopolysacharidosis (Hurler' s syndrome), a connective tissue enzyme deficiency disorder with rickets is presented. It was seen in a 3 year old female child. Though facilities to confirm the metabolite in urine were not available, the radiological changes appeared pathognomonic for Hurler Syndrome. They also showed the features of rickets.