{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T09:43:55Z","timestamp":1769766235180,"version":"3.49.0"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,3,8]]},"abstract":"<jats:p>A 58-year-old male patient was admitted at the S\u00e3o Bernardos\u2019s Hospital (Set\u00fabal, Portugal) with generalised muscle spasms, dyspnoea, laryngospasm and bronchospasm in the context of severe hypocalcaemia. Despite efforts to correct serum calcium, it remained below average, leading to question the true cause of hypocalcaemia. Low parathyroid hormone and 25-hydroxyvitamin D, along with facial anomalies, palate defect and cognitive impairment with concomitant psychiatric disorder led to a suspicion of a DiGeorge\/velocardiofacial\/22q11.2 deletion syndrome (DS), which was confirmed through genetic testing. The 22q11.2 DS has a wide phenotypic expression and there are growing reports of diagnosis being made in adulthood. This case report highlights the importance of understanding the cause of refractory hypocalcaemia and alerts medical community to carefully access these patients, for this metabolic disorder may only present in later stages of life.<\/jats:p>","DOI":"10.1136\/bcr-2017-224108","type":"journal-article","created":{"date-parts":[[2018,4,5]],"date-time":"2018-04-05T07:25:48Z","timestamp":1522913148000},"page":"bcr-2017-224108","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Hypocalcaemia in an adult: the importance of not overlooking the cause"],"prefix":"10.1136","volume":"2018","author":[{"given":"Catarina","family":"Abrantes","sequence":"first","affiliation":[{"name":"Department of Nephrology, Set\u00fabal Hospital Center, Set\u00fabal, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Brigas","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Set\u00fabal Hospital Center, Set\u00fabal, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo Jorge","family":"Casimiro","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Set\u00fabal Hospital Center, Set\u00fabal, Portugal"},{"name":"Histology and Developmental Biology Institute, Faculty of Medicine, University of Lisbon, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarida","family":"Madeira","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Set\u00fabal Hospital Center, Set\u00fabal, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,4,5]]},"reference":[{"key":"2025082700051982000_2018.apr05_1.bcr-2017-224108.1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.f2213"},{"key":"2025082700051982000_2018.apr05_1.bcr-2017-224108.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(01)80116-5"},{"key":"2025082700051982000_2018.apr05_1.bcr-2017-224108.3","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q.11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"2025082700051982000_2018.apr05_1.bcr-2017-224108.4","doi-asserted-by":"crossref","unstructured":"Hac\u0131hamdio\u011flu B , Hac\u0131hamdio\u011flu D , Delil K . 22q11 deletion syndrome: current perspective. 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