{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:40:45Z","timestamp":1792734045925,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"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":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low\u2010resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious, nutritional, and hematological conditions. We describe a 16\u2010month\u2010old boy who presented with lower limb weakness, irritability, feeding difficulties, and skin abnormalities during an acute respiratory infection. Initial evaluation raised differential diagnoses including tuberculosis, lymphoma, and leukemia because of overlapping clinical and laboratory features. Neuroimaging demonstrated bilateral periventricular white matter abnormalities and frontotemporal atrophy suggestive of leukodystrophy, with the clinical and radiologic presentation being compatible with suspected metachromatic leukodystrophy (MLD). Subsequent exome sequencing identified a variant in the fructose\u20101,6\u2010bisphosphatase 2 (FBP2) gene associated with childhood\u2010onset leukodystrophy. However, definitive biochemical and molecular confirmation for MLD, including ARSA enzyme activity, urinary sulfatide analysis, and ARSA\/PSAP sequencing, was not available. The patient showed partial clinical improvement following supportive management, including treatment for intercurrent infection and vitamin D deficiency. This case highlights the diagnostic challenges of suspected leukodystrophies in under\u2010resourced environments, where clinical suspicion often exceeds available diagnostic capacity. Furthermore, it underscores the global disparity in access to specialized metabolic and genetic testing, emphasizing the need for improved multidisciplinary collaboration and expanded diagnostic infrastructure to support timely diagnosis, counseling, and management of rare neurological disorders.<\/jats:p>","DOI":"10.1002\/ccr3.73584","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T04:46:31Z","timestamp":1790225191000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4322-7937","authenticated-orcid":false,"given":"William","family":"Nkenguye","sequence":"first","affiliation":[{"name":"Department of Epidemiology and Biostatistics KCMC University  Moshi Tanzania"},{"name":"Kilimanjaro Clinical Research Institute Kilimanjaro Christian Medical Centre  Moshi Tanzania"},{"name":"Global Emergency Medicine Innovation and Implementation Research Centre  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mujaheed","family":"Suleman","sequence":"additional","affiliation":[{"name":"Department of General Surgery Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3373-5762","authenticated-orcid":false,"given":"Jay","family":"Lodhia","sequence":"additional","affiliation":[{"name":"Department of General Surgery Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/1806\u20109282.66.10.1344"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2008.00648.x"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2014.10.001"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph20064732"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.52547\/jcbr.6.1.32"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010020\u201000621\u20106"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.017400"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20109\u201018"},{"issue":"3","key":"e_1_2_12_10_1","first-page":"57","article-title":"The Clinical Features and Diagnosis of 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