{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T04:36:37Z","timestamp":1764477397290,"version":"3.46.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T00:00:00Z","timestamp":1637539200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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\u2010linked recessive manner and is the most common MPS. Here, we report a 1\u2010year and 4\u2010month\u2010old 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\u2010sided inguinal hernia all consistent with a suspected MPS II diagnosis. The MPS II diagnosis was subsequently confirmed with genetic testing of the\n                    <jats:italic>IDS<\/jats:italic>\n                    gene. To our knowledge, this is the first case of MPS II reported from Ethiopia. This case shows the importance of early 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.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.5122","type":"journal-article","created":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T09:14:02Z","timestamp":1637572442000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A 1\u2010year and 4\u2010month\u2010old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7391-9419","authenticated-orcid":false,"given":"Solomie Jebessa","family":"Deribessa","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health St. Paul's Hospital Millennium Medical College Addis Ababa Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mekdes Endale","family":"Bisrat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health St. Paul's Hospital Millennium Medical College Addis Ababa Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zewdu","family":"Terefework","sequence":"additional","affiliation":[{"name":"MRC\u2010ET Advanced Laboratory Addis Ababa Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shane C.","family":"Quinonez","sequence":"additional","affiliation":[{"name":"Departement of Pediatrics and Communicable Disease Division of Genetics, Metabolism and Genomic Medicine University of Michigan Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,22]]},"reference":[{"key":"e_1_2_12_2_1","first-page":"1551","volume-title":"Nelson Text Book of Pediatrics","author":"J\u00fcrgen W S","year":"2016"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-92"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.016"},{"key":"e_1_2_12_5_1","unstructured":"GermaineLD.Hunter syndrome (mucopolysaccharidosis type II): background pathophysiology epidemiology. EMedicine 4 2018 emedicine.medscape.com\/article\/944723\u2010overview#:~:text=In%201917%20at%20The%20Royal. 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