{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:18:46Z","timestamp":1793747926277,"version":"4.6.1"},"reference-count":30,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,12,28]]},"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Vici syndrome is a genetic disorder involving autophagy dysfunction caused by biallelic pathogenic variants in ectopic P-granules 5 autophagy tethering factor (<jats:italic>EPG5<\/jats:italic>). We report the perinatal clinical course of a neonate with Vici syndrome with a unique cardiac presentation. Foetal ultrasonography (US) detected right ventricular hypertrophy, hypoplastic left ventricle and narrowing of the foramen ovale, which were alleviated after birth. Agenesis of the corpus callosum and cerebellar hypoplasia were missed antenatally. After delivery, the patient was clinically diagnosed with Vici syndrome and two novel pathogenic mutations were detected in <jats:italic>EPG5<\/jats:italic>. The T-cell receptor repertoire was selectively skewed in the V\u03b22 family. Immunological prophylaxis and tube feeding were introduced. Early diagnosis helps parents accept their child\u2019s prognosis and decide on a care plan. However, US has limited potential to detect clinical phenotypes associated with Vici syndrome. Foetal MRI may detect the characteristic abnormalities and contribute to antenatal diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2023-255847","type":"journal-article","created":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T00:42:23Z","timestamp":1704847343000},"page":"e255847","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Perinatal clinical course of Vici syndrome associated with novel <i>EPG5<\/i> variants: unique cardiac changes and difficulty with foetal diagnosis"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5697-0186","authenticated-orcid":false,"given":"Takashi","family":"Shima","sequence":"first","affiliation":[{"name":"Neonatology, Fukuoka Children's Hospital, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadamune","family":"Kinjo","sequence":"additional","affiliation":[{"name":"Neonatology, Fukuoka Children's Hospital, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sungyeon","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Hematology, Infection, and Immunology, Fukuoka Children's Hospital, Fukuoka, Japan"},{"name":"Department of Pediatrics, Graduate School of Medical Science, Kyushu University Hospital, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motoshi","family":"Sonoda","sequence":"additional","affiliation":[{"name":"Neonatology, Fukuoka Children's Hospital, Fukuoka, Japan"},{"name":"Department of Pediatrics, Graduate School of Medical Science, Kyushu University Hospital, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,1,5]]},"reference":[{"key":"2025082803581672000_17.1.e255847.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290102"},{"key":"2025082803581672000_17.1.e255847.2","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000022302","article-title":"Vici syndrome with pathogenic homozygous EPG5 gene mutation: a case report and literature review","volume":"99","author":"Abidi","year":"2020","journal-title":"Medicine (Baltimore)"},{"key":"2025082803581672000_17.1.e255847.3","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ejpn.2022.11.003","article-title":"Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant","volume":"41","author":"Vansenne","year":"2022","journal-title":"Eur J Paediatr Neurol"},{"key":"2025082803581672000_17.1.e255847.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2497"},{"key":"2025082803581672000_17.1.e255847.5","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-02840-8","article-title":"Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement","volume":"7","author":"Hori","year":"2017","journal-title":"Sci Rep"},{"key":"2025082803581672000_17.1.e255847.6","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4021"},{"key":"2025082803581672000_17.1.e255847.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.08.008"},{"key":"2025082803581672000_17.1.e255847.8","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gr\u00f8nskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"2025082803581672000_17.1.e255847.9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv393"},{"key":"2025082803581672000_17.1.e255847.10","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.12"},{"key":"2025082803581672000_17.1.e255847.11","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"2025082803581672000_17.1.e255847.12","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082803581672000_17.1.e255847.13","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ajmg.a.38061","article-title":"Prenatal and postnatal presentations of corpus callosum Agenesis with polymicrogyria caused by EGP5 mutation","volume":"173","author":"Maillard","year":"2017","journal-title":"Am J Med Genet A"},{"key":"2025082803581672000_17.1.e255847.14","doi-asserted-by":"crossref","first-page":"2522","DOI":"10.1002\/ajmg.a.38342","article-title":"Autopsy findings in EPG5-related Vici syndrome with antenatal onset","volume":"173","author":"Touraine","year":"2017","journal-title":"Am J Med Genet A"},{"key":"2025082803581672000_17.1.e255847.15","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/ajmg.a.38575","article-title":"Autopsy findings in EPG5-related Vici syndrome with antenatal onset: additional report of focal cortical microdysgenesis in a second trimester fetus","volume":"176","author":"Aggarwal","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025082803581672000_17.1.e255847.16","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1007\/s10875-022-01266-w","article-title":"EPG5 compound heterozygous unreported pathogenic variants in a Mexican patient with Vici syndrome","volume":"42","author":"Rodr\u00edguez-Morales","year":"2022","journal-title":"J Clin Immunol"},{"key":"2025082803581672000_17.1.e255847.17","article-title":"Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability","volume":"2011","author":"Rogers","year":"2011","journal-title":"Case Rep Genet"},{"key":"2025082803581672000_17.1.e255847.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36753"},{"key":"2025082803581672000_17.1.e255847.19","first-page":"e533","article-title":"2020 AHA\/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology\/American Heart Association joint committee on clinical practice guidelines","volume":"142","author":"Ommen","year":"2020","journal-title":"Circulation"},{"key":"2025082803581672000_17.1.e255847.20","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1080\/01443615.2021.1962822","article-title":"Clinical features and echocardiographic findings of isolated Foramen Ovale restriction in Foetuses","volume":"42","author":"Akba\u015f","year":"2022","journal-title":"J Obstet Gynaecol"},{"key":"2025082803581672000_17.1.e255847.21","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jpeds.2018.04.051","article-title":"Cardiopulmonary adaptation during first day of life in human neonates","volume":"200","author":"Jain","year":"2018","journal-title":"J Pediatr"},{"key":"2025082803581672000_17.1.e255847.22","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.crad.2014.11.004","article-title":"Antenatal diagnosis of Agenesis of the corpus callosum","volume":"70","author":"Craven","year":"2015","journal-title":"Clin Radiol"},{"key":"2025082803581672000_17.1.e255847.23","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s00247-021-05234-1","article-title":"Contribution of fetal magnetic resonance imaging in fetuses with congenital heart disease","volume":"52","author":"Goncalves","year":"2022","journal-title":"Pediatr Radiol"},{"key":"2025082803581672000_17.1.e255847.24","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1097\/RMR.0000000000000218","article-title":"Fetal cardiac MRI: a review of technical advancements","volume":"28","author":"Roy","year":"2019","journal-title":"Top Magn Reson Imaging"},{"key":"2025082803581672000_17.1.e255847.25","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1002\/jmri.26815","article-title":"MR imaging of the fetal heart","volume":"51","author":"Marini","year":"2020","journal-title":"J Magn Reson Imaging"},{"key":"2025082803581672000_17.1.e255847.26","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1080\/15548627.2017.1389356","article-title":"The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity","volume":"14","author":"Piano Mortari","year":"2018","journal-title":"Autophagy"},{"key":"2025082803581672000_17.1.e255847.27","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01289-3"},{"key":"2025082803581672000_17.1.e255847.28","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/ajmg.a.34244","article-title":"Immunodeficiency in Vici syndrome: a heterogeneous phenotype","volume":"158A","author":"Finocchi","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2025082803581672000_17.1.e255847.29","first-page":"53","article-title":"Alterations in T-cell receptor Vbeta repertoire of CD4 and CD8 T lymphocytes in human immunodeficiency virus-infected children","volume":"10","author":"Kharbanda","year":"2003","journal-title":"Clin Diagn Lab Immunol"},{"key":"2025082803581672000_17.1.e255847.30","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2022-057824","article-title":"The case for advance care planning in the NICU","volume":"150","author":"Lin","year":"2022","journal-title":"Pediatrics"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-255847","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:58:24Z","timestamp":1756378704000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-255847"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":30,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,5]]},"published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1136\/bcr-2023-255847"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-255847","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1]]}}}