Mucopolysaccharridosis type 1 and the challenges in managing this rare genetic disorder in the resource poor setting

Abstract

This case report is about a six-year-old Nigerian boy with a rare genetic disorder of attenuated mucopolysaccharidosis type 1 and the challenges that the clinicians face in managing these patients in resource poor settings. This patient presented with short stature with skeletal deformities, poor speech and intellectual impairment. He also had features such as coarse facial features with macroglossia, lichenified, dry thick skin and hepatosplenomegaly. Delay in the diagnosis is a common problem with this rare genetic disorder. Confirmation of the diagnosis and providing the recommended disease-specific therapeutic options such as of enzyme replacement therapy and haematopoeitic stem cell transplantation are the challenges that we face in managing these patients in the resource poor settings.

Keywords

• hurler-scheie syndrome, attenuated mucoplysaccharidosis type 1