{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:53:54Z","timestamp":1790376834854,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,23]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    We report a term infant presenting in early infancy with progressive developmental delay, feeding difficulties, recurrent seizures and failure to thrive. The infant initially exhibited symptoms from early neonatal age, including vomiting, lethargy and seizures, necessitating multiple hospitalisations. Progressive neurological deterioration, hepatomegaly, bilateral nephromegaly, hypothyroidism, gastro-oesophageal reflux disease and auditory neuropathy were noted. MRI showed cerebral atrophy and dilated ventricles. Extensive investigations ruled out infections, metabolic acidosis and structural brain malformations. Whole exome sequencing identified a homozygous missense mutation in the mannosyl-oligosaccharide glucosidase (\n                    <jats:italic>MOGS<\/jats:italic>\n                    ) gene (c.2090T&gt;C; p.Leu697Ser), previously reported in\n                    <jats:italic>MOGS<\/jats:italic>\n                    CDG (congenital disorder of glycosylation type IIb). A mannose-based diet led to partial improvement. This case highlights the importance of considering neurometabolic conditions such as CDG in infants with early-onset developmental and epileptic encephalopathy and multisystem involvement. Early diagnosis and supportive multidisciplinary care are vital for improving outcomes and guiding family counselling.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-268902","type":"journal-article","created":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:50:34Z","timestamp":1762325434000},"page":"e268902","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-3258","authenticated-orcid":false,"given":"R K","family":"Shwetabh","sequence":"first","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3427-7441","authenticated-orcid":false,"given":"Anita","family":"Singh","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2744-7825","authenticated-orcid":false,"given":"Kausik","family":"Mandal","sequence":"additional","affiliation":[{"name":"Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8659-7658","authenticated-orcid":false,"given":"Kirti","family":"Naranje","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akanksha","family":"Verma","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,11,4]]},"reference":[{"key":"2025120102403120000_18.11.e268902.1","doi-asserted-by":"crossref","first-page":"345","DOI":"10.4328\/ACAM.20376","article-title":"Congenital disorder of glycosylation type II: Case report","volume":"12","author":"Durmaz","year":"2021","journal-title":"Ann Clin Anal Med"},{"key":"2025120102403120000_18.11.e268902.2","doi-asserted-by":"crossref","first-page":"422","DOI":"10.4103\/ijmr.IJMR_820_16","article-title":"Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing","volume":"147","author":"Gupta","year":"2018","journal-title":"Indian J Med Res"},{"key":"2025120102403120000_18.11.e268902.3","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198002000-00117"},{"key":"2025120102403120000_18.11.e268902.4","doi-asserted-by":"crossref","DOI":"10.21037\/atm.2018.10.45","article-title":"Congenital disorders of glycosylation","volume":"6","author":"Chang","year":"2018","journal-title":"Ann Transl Med"},{"key":"2025120102403120000_18.11.e268902.5","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.719437","article-title":"The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases","volume":"12","author":"Pajusalu","year":"2021","journal-title":"Front Genet"},{"key":"2025120102403120000_18.11.e268902.6","doi-asserted-by":"publisher","DOI":"10.1542\/neo.18-4-e234"},{"key":"2025120102403120000_18.11.e268902.7","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.715151","article-title":"Congenital Disorders of Glycosylation: What Clinicians Need to Know?","volume":"9","author":"Lipi\u0144ski","year":"2021","journal-title":"Front Pediatr"},{"key":"2025120102403120000_18.11.e268902.8","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0647-2"},{"key":"2025120102403120000_18.11.e268902.9","doi-asserted-by":"publisher","DOI":"10.1086\/302948"},{"key":"2025120102403120000_18.11.e268902.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1302846"},{"key":"2025120102403120000_18.11.e268902.11","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-017-0386-7"},{"key":"2025120102403120000_18.11.e268902.12","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/s10038-018-0552-6","article-title":"Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb","volume":"64","author":"Li","year":"2019","journal-title":"J Hum Genet"},{"key":"2025120102403120000_18.11.e268902.13","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/ped.14110","article-title":"Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants","volume":"62","author":"Ota","year":"2020","journal-title":"Pediatr Int"},{"key":"2025120102403120000_18.11.e268902.14","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s10048-019-00590-5","article-title":"Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams","volume":"21","author":"Zhao","year":"2020","journal-title":"Neurogenetics"},{"key":"2025120102403120000_18.11.e268902.15","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.bbadis.2011.02.011","article-title":"Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern","volume":"1812","author":"Mohamed","year":"2011","journal-title":"Biochim Biophys Acta"},{"key":"2025120102403120000_18.11.e268902.16","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/ajmg.a.61916","article-title":"Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient","volume":"185","author":"Lo Barco","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2025120102403120000_18.11.e268902.17","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.braindev.2020.10.013","article-title":"Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction","volume":"43","author":"Anzai","year":"2021","journal-title":"Brain Dev"},{"key":"2025120102403120000_18.11.e268902.18","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108177"},{"key":"2025120102403120000_18.11.e268902.19","doi-asserted-by":"crossref","first-page":"7397","DOI":"10.12998\/wjcc.v10.i21.7397","article-title":"Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports","volume":"10","author":"Abuduxikuer","year":"2022","journal-title":"World J Clin Cases"},{"key":"2025120102403120000_18.11.e268902.20","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12588"},{"key":"2025120102403120000_18.11.e268902.21","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1093\/glycob\/cwac003","article-title":"Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation","volume":"32","author":"Beimdiek","year":"2022","journal-title":"Glycobiology"},{"key":"2025120102403120000_18.11.e268902.22","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwj017"},{"key":"2025120102403120000_18.11.e268902.23","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1002\/jimd.12241","article-title":"Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation","volume":"43","author":"\u010cechov\u00e1","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"2025120102403120000_18.11.e268902.24","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s12098-024-05308-6","article-title":"Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies","volume":"92","author":"Srivastava","year":"2025","journal-title":"Indian J Pediatr"},{"key":"2025120102403120000_18.11.e268902.25","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s10048-024-00754-y","article-title":"Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA\u202f: Report of a new patient and review of the literature","volume":"25","author":"Teutonico","year":"2024","journal-title":"Neurogenetics"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268902","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T10:40:39Z","timestamp":1764585639000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268902"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":25,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,4]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-268902"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268902","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}