{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:09:53Z","timestamp":1792782593981,"version":"4.5.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"University of Southern California","id":[{"id":"https:\/\/ror.org\/03taz7m60","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Radiol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Ferredoxin reductase (FDXR)-related mitochondriopathy is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the FDXR gene. The clinical presentation is highly variable, ranging from isolated sensory neuropathies to severe infantile-onset encephalopathy with early demise. Neuroimaging is typically normal. However, oxidative stress in the setting of systemic infection can precipitate severe symptoms with distinct imaging manifestations, including confluent white matter signal abnormality, longitudinally extensive spinal cord lesions, and optic nerve enhancement. We describe a previously healthy and asymptomatic 2-year-old female with genetically\u00a0confirmed FDXR-related mitochondriopathy who was found to have a distinct pattern of diffusion restriction, rapid parenchymal atrophy, and optic nerve changes following a respiratory illness. Early recognition and management of this rare but potentially devastating entity can help prevent vision loss and improve functional outcomes.<\/jats:p>","DOI":"10.1007\/s00247-026-06734-8","type":"journal-article","created":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T07:11:35Z","timestamp":1784704295000},"page":"2591-2595","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuroimaging in FDXR-related mitochondriopathy"],"prefix":"10.1007","volume":"56","author":[{"given":"Allison","family":"Lam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce D.","family":"Beutler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddhanth S.","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Barkovich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony R.","family":"Zamary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando A.","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"6734_CR1","doi-asserted-by":"publisher","first-page":"4937","DOI":"10.1093\/hmg\/ddx377","volume":"26","author":"Y Peng","year":"2017","unstructured":"Peng Y, Shinde DN, Valencia CA et al (2017) Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet 26:4937\u20134950","journal-title":"Hum Mol Genet"},{"key":"6734_CR2","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1002\/humu.24160","volume":"42","author":"SL Stenton","year":"2021","unstructured":"Stenton SL, Piekutowska-Abramczuk D, Kulterer L et al (2021) Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat 42:310\u2013319","journal-title":"Hum Mutat"},{"key":"6734_CR3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2024.104102","volume":"29","author":"A Kaler","year":"2025","unstructured":"Kaler A, Couser N (2025) Ocular and neurological manifestations of the FDXR-related disorder. J AAPOS 29:104102","journal-title":"J AAPOS"},{"key":"6734_CR4","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1016\/j.ajhg.2017.09.007","volume":"101","author":"A Paul","year":"2017","unstructured":"Paul A, Drecourt A, Petit F et al (2017) FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases. Am J Hum Genet 101:630\u2013637","journal-title":"Am J Hum Genet"},{"key":"6734_CR5","first-page":"221","volume":"7","author":"IS Ruhoy","year":"2014","unstructured":"Ruhoy IS, Saneto RP (2014) The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet 7:221\u2013234","journal-title":"Appl Clin Genet"},{"key":"6734_CR6","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41582-018-0101-0","volume":"15","author":"S Rahman","year":"2019","unstructured":"Rahman S, Copeland WC (2019) POLG-related disorders and their neurological manifestations. Nat Rev Neurol 15:40\u201352","journal-title":"Nat Rev Neurol"},{"key":"6734_CR7","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.ymgme.2015.06.004","volume":"116","author":"AW El-Hattab","year":"2015","unstructured":"El-Hattab AW, Adesina AM, Jones J, Scaglia F (2015) MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab 116:4\u201312","journal-title":"Mol Genet Metab"},{"key":"6734_CR8","unstructured":"Engelen M, Abbink TEM, Salomons GS, van der Knaap MS (2021) Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. 2010 May 25 [updated 2021 Feb 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.) GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1993\u20132026"}],"container-title":["Pediatric Radiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-026-06734-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00247-026-06734-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-026-06734-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:11:15Z","timestamp":1792023075000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00247-026-06734-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,22]]},"references-count":8,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2026,10]]}},"alternative-id":["6734"],"URL":"https:\/\/doi.org\/10.1007\/s00247-026-06734-8","relation":{},"ISSN":["1432-1998"],"issn-type":[{"value":"1432-1998","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,22]]},"assertion":[{"value":"10 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 July 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 July 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"None.","order":1,"name":"Ethics","label":"Conflicts of interest","group":{"name":"EthicsHeading","label":"Declarations"}}]}}