What is it about?
Abstract: Background: Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS-II, also known as Hunter syndrome, is inherited in an X-linked recessive manner and is the most common MPS. Case: Here we report a 1 year and 4 month old boy who presented with delayed developmental milestones, back deformity and left scrotal swelling noticed by parents at one year of age. He has coarse facial appearance with macrocephaly, widened wrists, congenital dermal melanocytosis on his back, kyphotic deformity in the thoracolumbar area and left sided inguinal hernia all consistent with a suspected MPS-II diagnosis. The MPS-II diagnosis was subsequently confirmed with genetic testing of the IDS gene.
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Why is it important?
To our knowledge this is the first case of MPS-II reported from Ethiopia. This case shows the importance of clinical recognition of genetic conditions and the utility of genetic testing for confirmation. The diagnosis provided important surveillance and natural history information for the patient’s providers and family.
Perspectives
I believe this publication can be accessed by many and will teach people about this relatively rare disorder.
Solomie Deribessa
St. Paul’s Hospital Millennium Medical College
Read the Original
This page is a summary of: A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia, Clinical Case Reports, November 2021, Wiley,
DOI: 10.1002/ccr3.5122.
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