{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T10:59:54Z","timestamp":1790593194856,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T00:00:00Z","timestamp":1788652800000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by \u03b1\u2010\n                    <jats:sc>l<\/jats:sc>\n                    \u2010iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf\u2013Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment. Because the\n                    <jats:italic>IDUA<\/jats:italic>\n                    gene is located within the 4p16.3 region, the coexistence of WHS and MPS I is biologically plausible but rarely documented. We describe a 2\u2010year\u2010old child of North African origin presenting with dysmorphic features, developmental delay, and thoracolumbar kyphosis. Chromosomal microarray analysis identified a 5.8\u2009Mb deletion at 4p16.3\u2013p16.2, confirming WHS at 17\u2009months. However, additional clinical features remained unexplained. Incidentally, during a routine blood test, a blood smear revealed lymphocytes with metachromatic inclusions, raising suspicion of a lysosomal storage disorder. An enzymatic assay confirmed \u03b1\u2010\n                    <jats:sc>l<\/jats:sc>\n                    \u2010iduronidase deficiency, and molecular analysis identified biallelic pathogenic alterations in the\n                    <jats:italic>IDUA<\/jats:italic>\n                    gene located on chromosome 4p16.3, establishing the diagnosis of MPS I at 18\u2009months. Enzyme replacement therapy was initiated at 19\u2009months and was associated with stabilization of the somatic manifestations of MPS I, including improvement in respiratory symptoms. This observation highlights the risk of diagnostic overshadowing in rare diseases. A confirmed genetic diagnosis should not preclude further investigations when clinical features are discordant.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70117","type":"journal-article","created":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T02:29:13Z","timestamp":1788748153000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf\u2013Hirschhorn Syndrome: Diagnostic Overshadowing"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-3717-6359","authenticated-orcid":false,"given":"Karla","family":"Cifuentes\u2010Uribe","sequence":"first","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, Femme M\u00e8re Enfant Hospital Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8924-2797","authenticated-orcid":false,"given":"Sandrine","family":"Girard","sequence":"additional","affiliation":[{"name":"Laboratory of Hematology, Center of Biology and Pathology East Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Inborn Error of Metabolism Unit Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9569-912X","authenticated-orcid":false,"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Inborn Error of Metabolism Unit Hospices Civils de Lyon  Lyon 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