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.
Highlights
Mucopolysaccharidosis type 1 (MPS 1) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme α-L-iduronidase
The diagnosis of attenuated MPS 1 is based on the age of onset, relatively slow progression, presence of corneal clouding, hepatosplenomegaly, stiff joints, clinical evidence dysostosis multiplex, coarse facial features, hernia and normal thyroid function test results
Hurler-Scheie syndrome is the commonest MPS 1 found in Brazil and Chile but not in the other Latin American countries [6]
Summary
Mucopolysaccharidosis type 1 (MPS 1) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme α-L-iduronidase. Confirmation of the diagnosis is by the assessment of enzyme activity in leucocytes or cultured skin fibroblasts This is a rare genetic disorder with an estimated global prevalence rates of 1:100,000, 1:300,000, 1:1 000,000 newborns for Hurler, Hurler-Scheie and Scheie syndromes respectively [8]. The purpose of this report is to describe a rare case of attenuated type MPS 1 (Hurler-Scheie syndrome) affecting a six-year-old Nigerian boy and to discuss the challenges of management in a resource-limited setting. CASE REPORT This is a six-year-old Nigerian boy who presented with deformity of the spine and limbs for 3 years, poor speech for 2 years and a progressive decline in reading ability for one year His developmental milestones have been within normal limits before the onset of symptoms. Urine screening test for acid mucopolysaccharides (dermatan and heparan sulfates) and confirmatory enzyme activity assay for α-L-iduronidase were not performed because of the unavailability of these laboratory facilities in our centre
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