{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T05:46:23Z","timestamp":1792215983950,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":["Pediatric Transplantation"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Fucosidosis is an ultra\u2010rare lysosomal storage disorder caused by alpha\u2010L\u2010fucosidase deficiency, leading to progressive neurodegeneration and multisystem involvement. Hematopoietic stem cell transplantation (HSCT) has emerged as a potential disease\u2010modifying therapy, particularly when performed early in the disease course. However, neuroradiological reversibility after HSCT remains insufficiently documented.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report a male infant diagnosed with Type 1 fucosidosis at 6\u2009months of age based on enzymatic and genetic analyses. Brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) demonstrated characteristic abnormalities, including central tegmental tract involvement. The patient underwent allogeneic HSCT at 14\u2009months of age and was followed clinically and radiologically.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Following HSCT, the patient demonstrated stabilization and gradual improvement of neurological functions. Follow\u2010up neuroimaging revealed marked regression of white matter abnormalities and reversal of central tegmental tract hyperintensities. Developmental progression improved after transplantation, and no major transplant\u2010related neurological complications occurred.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Early HSCT was accompanied by clinical improvement and resolution of central tegmental tract abnormalities in this patient. These imaging changes may help assess treatment response, though larger cohorts and longer follow\u2010up are needed to evaluate long\u2010term outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/petr.70502","type":"journal-article","created":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T05:36:56Z","timestamp":1792215416000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Early Hematopoietic Stem Cell Transplantation in Type 1 Fucosidosis: Reversal of Central Tegmental Tract Abnormalities"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6062-0429","authenticated-orcid":false,"given":"Mehmet","family":"Palaz","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5397-0583","authenticated-orcid":false,"given":"Ahmet","family":"Ta\u015fk\u0131n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"\u00d6zp\u0131nar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Top\u00e7u","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y\u00f6ntem","family":"Yaman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0884-2635","authenticated-orcid":false,"given":"Bet\u00fcl","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00fcr\u015fad","family":"Ayd\u0131n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Istanbul Medipol University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"issue":"11","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes11111383","article-title":"Fucosidosis\u2014Clinical Manifestation, Long\u2010Term Outcomes, and Genetic Profile\u2014Review and Case Series","volume":"11","author":"Stepien K. M.","year":"2020","journal-title":"Genes (Basel)"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/ajmg.1320380125","article-title":"Fucosidosis Revisited: A Review of 77 Patients","volume":"38","author":"Willems P. J.","year":"1991","journal-title":"American Journal of Medical Genetics"},{"key":"e_1_2_10_4_1","doi-asserted-by":"crossref","DOI":"10.24953\/turkjped.2021.4852","article-title":"Fucosidosis: Clinical and Molecular Findings of Turkish Patients","volume":"64","author":"Sanl\u0131 M. E.","year":"2022","journal-title":"Turkish Journal of Pediatrics"},{"key":"e_1_2_10_5_1","first-page":"1","article-title":"An Unusual Presentation of Fucosidosis in a Chinese Boy: A Case Report and Literature Review","volume":"22","author":"Mao S. J.","year":"2022","journal-title":"BMC Pediatrics"},{"key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"2971","DOI":"10.1093\/brain\/awq257","article-title":"Magnetic Resonance Imaging Pattern Recognition in Hypomyelinating Disorders","volume":"133","author":"Steenweg M. E.","year":"2010","journal-title":"Brain"},{"issue":"5","key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.braindev.2015.09.013","article-title":"MRI and MRS Findings in Fucosidosis: A Rare Lysosomal Storage Disease","volume":"38","author":"Ediz S. S.","year":"2016","journal-title":"Brain & Development"},{"key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1007\/s00247-010-1593-y","article-title":"Characteristic MR Spectroscopy in Fucosidosis: In\u00a0Vitro Investigation","volume":"40","author":"Mamourian A. C.","year":"2010","journal-title":"Pediatric Radiology"},{"key":"e_1_2_10_9_1","first-page":"777","article-title":"MR Brain Imaging of Fucosidosis Type I","volume":"22","author":"Galluzzi P.","year":"2001","journal-title":"AJNR. American Journal of Neuroradiology"},{"key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/sj.bmt.1702994","article-title":"Four Year Follow\u2010Up of a Case of Fucosidosis Treated With Unrelated Donor Bone Marrow Transplantation","volume":"27","author":"Miano M.","year":"2001","journal-title":"Bone Marrow Transplantation"},{"issue":"8","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1007\/s12098-024-05110-4","article-title":"Hematopoietic Stem Cell Transplantation for Storage Disorders: Present Status","volume":"91","author":"Chakraborty S.","year":"2024","journal-title":"Indian Journal of Pediatrics"},{"key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"611","DOI":"10.3390\/biom11040611","article-title":"Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development","volume":"11","author":"Massaro G.","year":"2021","journal-title":"Biomolecules"},{"key":"e_1_2_10_13_1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-015-0357-z","article-title":"Intracisternal Enzyme Replacement Reduces Central Neuropathology in Canine Fucosidosis","volume":"10","author":"Kondagari G. S.","year":"2015","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_10_14_1","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.4103\/0028-3886.359164","article-title":"Classical Clinical and Radiological Findings in Fucosidosis","volume":"70","author":"Badal S.","year":"2022","journal-title":"Neurology India"},{"key":"e_1_2_10_15_1","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1002\/ajmg.1320420439","article-title":"Amelioration of Clinical Disease Following Bone Marrow Transplantation in Fucosidase\u2010Deficient Dogs","volume":"42","author":"Taylor R. M.","year":"1992","journal-title":"American Journal of Medical Genetics"},{"key":"e_1_2_10_16_1","first-page":"153","article-title":"Allogeneic Bone Marrow Transplantation for Fucosidosis","volume":"15","author":"Vellodi A.","year":"1995","journal-title":"Bone Marrow Transplantation"},{"issue":"1","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","DOI":"10.3390\/ijms26010353","article-title":"Fucosidosis: A Review of a Rare Disease","volume":"26","author":"Pekdemir B.","year":"2025","journal-title":"International Journal of Molecular Sciences"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.70502","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/petr.70502","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.70502","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T05:36:59Z","timestamp":1792215419000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.70502"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1111\/petr.70502"],"URL":"https:\/\/doi.org\/10.1111\/petr.70502","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"value":"1397-3142","type":"print"},{"value":"1399-3046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"2026-05-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70502"}}