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

2025/08/19 by Egbuna, Obidike, Njeze, Ngozi R., Ude, A. C. +2

paper · doi:10.82235/wajr.vol11no1.141

Abstract

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.

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