{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:28:26Z","timestamp":1777516106824,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003669","name":"Research of Korea Centers for Disease Control and Prevention","doi-asserted-by":"crossref","award":["2021-ER0701-01"],"award-info":[{"award-number":["2021-ER0701-01"]}],"id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy after febrile episode, mimicking post-infectious encephalitis. The patient had displayed normal development until 12 months of age. At 13 months of age, one month after experiencing a post-vaccination fever, she quickly progressed to being unable to sit unassisted nor speak any words. Analysis of the cerebrospinal fluid (CSF) revealed lympho-dominant pleocytosis. Amino acid analysis of both the serum and CSF demonstrated elevated glycine exclusively in the CSF. Diffuse leukodystrophy was noted in the brain magnetic resonance image. Whole exome sequencing revealed compound heterozygous ISCA2 variants of c.166T&gt;G, p.C56G and c.422A&gt;C, p.Q141P. No evidence of mitochondrial disease other than bilateral optic atrophy was noted. In cases of early onset rapid developmental regression with leukodystrophy, MMDS4 should be considered.<\/jats:p>","DOI":"10.1177\/2329048x231210421","type":"journal-article","created":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T04:02:27Z","timestamp":1698638547000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel\n                    <i>ISCA2<\/i>\n                    Variants, Mimicking Post-Infectious Encephalitis"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3740-7712","authenticated-orcid":false,"given":"Hyungjin","family":"Chin","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaeso","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, Seoul National University Hospital, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woo Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Yeon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, Seoul National University Hospital, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Jongno-gu, Korea"},{"name":"Department of Genomic Medicine, Seoul National University Hospital, Jongno-gu, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,10,30]]},"reference":[{"key":"bibr1-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23396"},{"key":"bibr2-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.08.001"},{"key":"bibr3-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102592"},{"key":"bibr4-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.10.003"},{"key":"bibr5-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-017-0181-3"},{"key":"bibr6-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.12.015"},{"key":"bibr7-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-019-1387-2"},{"key":"bibr8-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-020-00611-8"},{"key":"bibr9-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-022-00871-4"},{"key":"bibr10-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1101\/2022.03.20.485034"},{"key":"bibr11-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1016\/j.msard.2018.01.003"},{"key":"bibr12-2329048X231210421","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2022.119307"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X231210421","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X231210421","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X231210421","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:27Z","timestamp":1777391847000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X231210421"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":12,"alternative-id":["10.1177\/2329048X231210421"],"URL":"https:\/\/doi.org\/10.1177\/2329048x231210421","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"2329048X231210421"}}