{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T23:05:11Z","timestamp":1780700711712,"version":"3.54.1"},"reference-count":12,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T00:00:00Z","timestamp":1765929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Background\/Objectives: Scheie syndrome is the attenuated phenotype of mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder resulting from partial deficiency of \u03b1-L-iduronidase. The attenuated clinical spectrum and absence of cognitive impairment often delay recognition. Early manifestations may mimic common pediatric conditions, leading to repeated evaluations without a definitive diagnosis. Methods: We describe a 12-year-old girl who presented with slowly progressive bilateral hand stiffness, weak grip strength, and intermittent sensory symptoms over one year. Her initial investigations\u2014including laboratory studies, electrophysiology, imaging, and multispecialty evaluations\u2014were unremarkable. Results: The gradual progression of symptoms involving joints, motor function, and vision prompted metabolic testing. Whole exome sequencing revealed a homozygous IDUA variant, and enzymatic testing confirmed markedly reduced \u03b1-L-iduronidase activity, establishing the diagnosis of Scheie syndrome. Early initiation of enzyme replacement therapy was pursued. Conclusions: This case emphasizes that children with unexplained musculoskeletal and sensory symptoms should be evaluated for attenuated MPS I, especially when routine studies are inconclusive. Heightened clinical suspicion can reduce diagnostic delay and improve long-term outcomes.<\/jats:p>","DOI":"10.3390\/neurolint17120205","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T09:43:46Z","timestamp":1765964626000},"page":"205","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome\u2014A Case Report"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-9926-9177","authenticated-orcid":false,"given":"Ayidh Saad","family":"Alharthi","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, King Fahad Hospital, Al-Baha P.O. Box 204, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chafik Ibrahim","family":"Hassan","sequence":"additional","affiliation":[{"name":"Pediatric and Neonatology Department, King Fahad Hospital, Al-Baha P.O. Box 204, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Alsayed","family":"Alsharkawy","sequence":"additional","affiliation":[{"name":"Pediatric and Neonatology Department, King Fahad Hospital, Al-Baha P.O. Box 204, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeed Dhaifallah Saeed","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Pediatric and Neonatology Department, King Fahad Hospital, Al-Baha P.O. Box 204, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9291-5248","authenticated-orcid":false,"given":"Saif Ahmed","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Pediatric and Neonatology Department, King Fahad Hospital, Al-Baha P.O. Box 204, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"ref_1","unstructured":"Valle, D.L., Antonarakis, S., Ballabio, A., Beaudet, A.L., and Mitchell, G.A. (2001). The mucopolysaccharidoses. The Online Metabolic and Molecular Bases of Inherited Disease, McGraw Hill."},{"key":"ref_2","unstructured":"Clarke, L.A. (2025, December 01). 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Med."}],"container-title":["Neurology International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2035-8377\/17\/12\/205\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T10:13:57Z","timestamp":1765966437000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2035-8377\/17\/12\/205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,17]]},"references-count":12,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["neurolint17120205"],"URL":"https:\/\/doi.org\/10.3390\/neurolint17120205","relation":{},"ISSN":["2035-8377"],"issn-type":[{"value":"2035-8377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,17]]}}}