{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:59:24Z","timestamp":1790657964757,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"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>Fatty acid hydroxylase\u2010associated neurodegeneration (FAHN) is an ultra\u2010rare neurological disorder caused by a mutation in the FA2H gene. Defective production of this gene leads to abnormal myelin formation, which subsequently causes neurodegeneration and brain iron accumulation. This case report presents the case of a 7\u2010year\u2010old boy from Pakistan who was born to consanguineous parents. The initial symptom presented at two and a half years of age with seizures. His clinical course progressively worsened, manifesting as gait disturbances, dystonia, and regression of milestones. By the age of 7, he was unable to walk without support. On examination, the patient had a spastic diplegic gait with plantarflexion contracture in both lower limbs. Brain Magnetic Resonance Imaging (MRI) findings reported abnormal T2\u2010weighted hyperintensities, predominantly involving the parietal white matter, which is suggestive of FAHN. Finally, the diagnosis was confirmed by genetic analysis with the identification of a strong homozygous c.704G&gt;A (p.Arg235 His) missense mutation in the FA2H gene.<\/jats:p>","DOI":"10.1002\/ccr3.73559","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:36:00Z","timestamp":1790656560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Fatty Acid Hydroxylase\u2010Associated Neurodegeneration in a Pakistani Boy With a Homozygous\n                    <scp>FA2H<\/scp>\n                    Variant"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-4966-0411","authenticated-orcid":false,"given":"Araj Naveed","family":"Siddiqui","sequence":"first","affiliation":[{"name":"Jinnah Sindh Medical University  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yamna Naveed","family":"Siddiqui","sequence":"additional","affiliation":[{"name":"Karachi Metropolitan University  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9843-4118","authenticated-orcid":false,"given":"Noor ul Huda","family":"Abbasi","sequence":"additional","affiliation":[{"name":"Jinnah Sindh Medical University  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raman","family":"Kumar","sequence":"additional","affiliation":[{"name":"Liaquat National Hospital  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8347-7236","authenticated-orcid":false,"given":"Hermann","family":"Yokolo","sequence":"additional","affiliation":[{"name":"Department of Research Medical Research Circle (MedReC)  Goma Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010013\u20101115\u20108"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.025"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1476\u2010511X\u201010\u201084"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21205"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.21172"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz102"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.010"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12336"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.11.069"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.11.006"},{"key":"e_1_2_12_12_1","unstructured":"National Institute of Population Studies (Pakistan) \u201cWomen Well\u2010Being a Life in Progress: An In\u2010Depth Analysis of Pakistan Demographic and Health Survey 2012\u201313 \u201d National Institute of Population Studies 2016 https:\/\/dhsprogram.com\/pubs\/pdf\/FR354\/FR354.pdf."}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73559","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.73559","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73559","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:36:10Z","timestamp":1790656570000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.73559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,28]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/ccr3.73559"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.73559","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,28]]},"assertion":[{"value":"2026-06-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e73559"}}