{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T18:54:37Z","timestamp":1768244077082,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,12,26]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>We report the case of a male in his late teens who presented to our emergency department with acute generalised tonic-clonic seizures. Neurological examination, neuroimaging and laboratory tests confirmed severe hypocalcaemia, secondary to hypoparathyroidism, as the cause of his seizures. A detailed history was significant for recurrent urinary tract infections and epilepsy, accompanied by impaired academic performance and an intracardiac repair 8 years prior to presentation for a congenital cyanotic heart disease. Dysmorphic features on clinical examination, accompanied by the chronicity of complaints, led us to consider a genetic syndrome. On genomic microarray analysis (GMA), a 22q11.21 deletion was detected. The present case aims to highlight how commonly encountered laboratory findings, such as hypocalcaemia, can facilitate the identification of genetic associations like 22q11.2 deletion syndrome (22q11.2DS), a rare diagnosis in adulthood. In many cases, clinical problems may be managed in isolation without triggering a unifying diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2025-267427","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T15:30:25Z","timestamp":1768231825000},"page":"e267427","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4281-2399","authenticated-orcid":false,"given":"Chaitra","family":"Kannadka","sequence":"first","affiliation":[{"name":"General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arundhati Girish","family":"Diwan","sequence":"additional","affiliation":[{"name":"General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6646-0857","authenticated-orcid":false,"given":"Swati","family":"Chouhan","sequence":"additional","affiliation":[{"name":"General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0427-8031","authenticated-orcid":false,"given":"Bryan","family":"Koithara","sequence":"additional","affiliation":[{"name":"General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,12]]},"reference":[{"key":"2026011207301026000_19.1.e267427.1","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2026011207301026000_19.1.e267427.2","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2019.01365","article-title":"The Genetics and Epigenetics of 22q11.2 Deletion Syndrome","volume":"10","author":"Du","year":"2019","journal-title":"Front Genet"},{"key":"2026011207301026000_19.1.e267427.3","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1186\/s13023-023-02903-2","article-title":"Preliminary study of noninvasive prenatal screening for 22q11.2 deletion\/duplication syndrome using multiplex dPCR assay","volume":"18","author":"Wang","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"2026011207301026000_19.1.e267427.4","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ejmg.2017.12.013","article-title":"Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review","volume":"61","author":"Spineli-Silva","year":"2018","journal-title":"Eur J Med Genet"},{"key":"2026011207301026000_19.1.e267427.5","unstructured":"McDonald-McGinn DM , Hain HS , Emanuel BS , et al . 22q11.2 deletion syndrome. In: Adam MP , Bick S , Mirzaa GM , eds. GeneReviews. Seattle (WA): University of Washington, 1999: 1993\u20132025."},{"key":"2026011207301026000_19.1.e267427.6","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-56"},{"key":"2026011207301026000_19.1.e267427.7","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1002\/ajmg.a.40637","article-title":"What is new with 22q? An update from the 22q and You Center at the Children\u2019s Hospital of Philadelphia","volume":"176","author":"Campbell","year":"2018","journal-title":"American J of Med Genetics Pt A"},{"key":"2026011207301026000_19.1.e267427.8","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/s40246-024-00625-5","article-title":"Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p","volume":"18","author":"Dantas","year":"2024","journal-title":"Hum Genomics"},{"key":"2026011207301026000_19.1.e267427.9","doi-asserted-by":"crossref","DOI":"10.3390\/children9081168","article-title":"Deletion Syndrome 22q11.2: A Systematic Review","volume":"9","author":"Cort\u00e9s-Mart\u00edn","year":"2022","journal-title":"Children"},{"key":"2026011207301026000_19.1.e267427.10","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1044\/2019_AJSLP-16-0147","article-title":"Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management","volume":"28","author":"Solot","year":"2019","journal-title":"Am J Speech Lang Pathol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267427","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T15:30:29Z","timestamp":1768231829000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267427"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,12]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-267427"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267427","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}