{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T03:55:53Z","timestamp":1781063753722,"version":"3.54.1"},"reference-count":35,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Pediatr"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>\n                    MEGDEL syndrome is a rare autosomal recessive disease characterized by 3-methylglutaconic aciduria, deafness-dystonia, hepatopathy, encephalopathy, and leigh-like syndrome, which results from biallelic pathogenic variants in\n                    <jats:italic>SERAC1<\/jats:italic>\n                    gene. The diagnosis is commonly challenging due to the diverse clinical manifestations. Herein, we report the first case of MEGDEL syndrome from the Egyptian population. This is a 7-year-old boy born to first cousins Arab parents from Egypt with family history of unexplained deaths of 3 siblings during the neonatal period. He presented with developmental regression since the age of 2\u2009years resulting in marked muscle weakness with no head support, generalized spasticity more prominent in lower limbs, and aphonia, but intact hearing. The child had excessive urinary excretion of 3-methylglutaconic acid, and his brain magnetic resonance imaging showed characteristic basal ganglia affection with \u201cPutaminal eye sign.\u201d Whole-exome sequencing demonstrated a likely pathogenic homozygous c.1404-2A&gt;G variant in\n                    <jats:italic>SERAC1<\/jats:italic>\n                    gene. This report expands the epidemiological and phenotypic spectrum of MEGDEL syndrome by reporting the first case from the Egyptian population who had relatively delayed onset and no evident hepatopathy or deafness.\n                  <\/jats:p>","DOI":"10.1177\/11795565251348345","type":"journal-article","created":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T16:29:12Z","timestamp":1755188952000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt"],"prefix":"10.1177","volume":"19","author":[{"given":"Abdelrahim A.","family":"Sadek","sequence":"first","affiliation":[{"name":"Neuropsychiatry Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Aladawy","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Pediatrics, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek MM.","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department of Radio-Diagnosis, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Fawzy","family":"Fouad","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Pediatrics, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rofaida M.","family":"Magdy","sequence":"additional","affiliation":[{"name":"Neuropsychiatry Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0883-3018","authenticated-orcid":false,"given":"Mohamed Mohamed","family":"Elmoursy","sequence":"additional","affiliation":[{"name":"Audio-vestibular Medicine Unit, Department of ENT, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8976-2989","authenticated-orcid":false,"given":"Elsayed","family":"Abdelkreem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Sohag University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,8,14]]},"reference":[{"key":"e_1_3_3_2_2","unstructured":"Wortman S de Brouwer A Wevers R Morava E. SERAC1 Deficiency. University of Washington; 2014. Accessed August 23 2024. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK195853\/"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.03.009"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104622"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.445"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2325"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2021.166298"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25110"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2020.102730"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10223"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2024.1278047"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814541474"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1602833"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.07.013"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-018-3247-z"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.815"},{"issue":"6","key":"e_1_3_3_17_2","first-page":"3505","article-title":"A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing","volume":"19","author":"Alagoz M","year":"2020","unstructured":"Alagoz M, Kherad N, Turkmen S, Bulut H, Yuksel A. A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. Exp Ther Med. 2020;19(6):3505-3512.","journal-title":"Exp Ther Med"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1159\/000516319"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13075"},{"issue":"2","key":"e_1_3_3_20_2","first-page":"203","article-title":"Two cases of MEGDHEL syndrome diagnosed with hyperammonemia","volume":"36","author":"Molla GK","year":"2023","unstructured":"Molla GK, Ka\u011fn\u0131c\u0131 M, G\u00fcnlemez A, Yeni Y, \u00dcnal Uzun \u00d6. Two cases of MEGDHEL syndrome diagnosed with hyperammonemia. J Pediatr Endocrinol Metab. 2023;36(2):203-206.","journal-title":"J Pediatr Endocrinol Metab"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.816265"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62886"},{"issue":"19","key":"e_1_3_3_23_2","article-title":"Teaching NeuroImage: the Putaminal Eye: A highly characteristic imaging feature of MEGDEL syndrome","volume":"101","author":"Altamimi R","year":"2023","unstructured":"Altamimi R, Aldhalaan H, Tous E, Nicolas-Jilwan M. Teaching NeuroImage: the Putaminal Eye: A highly characteristic imaging feature of MEGDEL syndrome. Neurol. 2023;101(19):e1943-e1944.","journal-title":"Neurol"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200067"},{"issue":"9","key":"e_1_3_3_25_2","first-page":"1100","article-title":"Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review","volume":"40","author":"Lin X","year":"2023","unstructured":"Lin X, Lin X, Yan Z, Chen Y, Chen S. Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review. Chin J Med Genet. 2023;40(9):1100-1106.","journal-title":"Chin J Med Genet"},{"issue":"16","key":"e_1_3_3_26_2","first-page":"4","article-title":"SERAC1 deficiency-a new phenotype","volume":"24","author":"Martins E","year":"2023","unstructured":"Martins E, Dur\u00e3es J, Nogueira C, et al. SERAC1 deficiency-a new phenotype. Endocr Metab Immune Disord Drug Targets. 2023;24(16):4-4.","journal-title":"Endocr Metab Immune Disord Drug Targets"},{"issue":"3","key":"e_1_3_3_27_2","article-title":"Incidental finding of MEGDEL syndrome at a tertiary care center in Saudi Arabia","volume":"16","author":"Alfaraidi AT","year":"2024","unstructured":"Alfaraidi AT, ALSulimani NK, Garout W. Incidental finding of MEGDEL syndrome at a tertiary care center in Saudi Arabia. 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Zhonghua Er Ke Za Zhi Chin J Pediatr. 2017;55(5):394-395.","journal-title":"Zhonghua Er Ke Za Zhi Chin J Pediatr"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2024.2024-1-11"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical Medicine Insights: Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795565251348345","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11795565251348345","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795565251348345","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T16:29:14Z","timestamp":1755188954000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11795565251348345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":35,"alternative-id":["10.1177\/11795565251348345"],"URL":"https:\/\/doi.org\/10.1177\/11795565251348345","relation":{"has-review":[{"id-type":"doi","id":"10.1177\/11795565251348345\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/11795565251348345\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/11795565251348345\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/11795565251348345\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/11795565251348345\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/11795565251348345\/v2\/decision1","asserted-by":"object"}]},"ISSN":["1179-5565","1179-5565"],"issn-type":[{"value":"1179-5565","type":"print"},{"value":"1179-5565","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]},"article-number":"11795565251348345"}}