{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T00:14:28Z","timestamp":1756167268995,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,12]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>In this case report, we present an infant with abnormal body movements in her second month. She was born of a third-degree consanguineous marriage, and the previous sibling, who had similar complaints beginning in the fourth month, expired in the fifth month. On reviewing the video recorded by parents, the abnormal movements were suggestive of tetany. Biochemical investigations showed hypocalcaemia, hypomagnesaemia, hypoparathyroidism, normal urinary excretion of calcium and urinary magnesium losses. Intravenous calcium and magnesium corrections were given, and oral supplements were initiated. The genetic evaluation revealed a <jats:italic>TRPM6<\/jats:italic> variant, a cause of intestinal hypomagnesaemia. The baby is currently thriving well on magnesium supplements.<\/jats:p>","DOI":"10.1136\/bcr-2025-266283","type":"journal-article","created":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T19:05:22Z","timestamp":1756148722000},"page":"e266283","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["An unusual cause of tetany in an infant born to a consanguineous couple with a sibling death"],"prefix":"10.1136","volume":"18","author":[{"given":"Rajendra Prasad","family":"Anne","sequence":"first","affiliation":[{"name":"Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila Samanta","family":"Mathai","sequence":"additional","affiliation":[{"name":"Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subhodh Sivarama","family":"Shetty","sequence":"additional","affiliation":[{"name":"Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6737-2023","authenticated-orcid":false,"given":"Shruthi Kumar","family":"Bharadwaj","sequence":"additional","affiliation":[{"name":"Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,25]]},"reference":[{"key":"2025082512051758000_18.8.e266283.1","doi-asserted-by":"crossref","unstructured":"Schurman SJ , Patel D , Singh A , et al . Inherited magnesium disorders. In: Genetics of bone biology and skeletal disease. Elsevier, 2013: 569\u201384.","DOI":"10.1016\/B978-0-12-387829-8.00035-4"},{"key":"2025082512051758000_18.8.e266283.2","unstructured":"Submissions for variant NM_017662.5(TRPM6):c.2854C&gt;T (p.Arg952Trp). ClinVar Miner. Available: https:\/\/clinvarminer.genetics.utah.edu\/submissions-by-variant\/NM_017662.5%28TRPM6%29%3Ac.2854C%3ET%20%28p.Arg952Trp%29 [Accessed 18 Jun 2025]."},{"key":"2025082512051758000_18.8.e266283.3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082512051758000_18.8.e266283.4","doi-asserted-by":"crossref","DOI":"10.1155\/2019\/4318075","article-title":"Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?","volume":"2019","author":"Vuralli","year":"2019","journal-title":"Int J Pediatr"},{"key":"2025082512051758000_18.8.e266283.5","unstructured":"Gomella TL , Cunningham MD , Eyal FG , et al . Magnesium disorders (hypomagnesemia, hypermagnesemia). In: Neonatology: management, procedures, on-call problems, diseases, and drugs, 7e. New York, NY: McGraw-Hill Education, 2013."},{"key":"2025082512051758000_18.8.e266283.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3909"},{"key":"2025082512051758000_18.8.e266283.7","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2004110989"},{"key":"2025082512051758000_18.8.e266283.8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M611117200"},{"key":"2025082512051758000_18.8.e266283.9","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfr300"},{"key":"2025082512051758000_18.8.e266283.10","doi-asserted-by":"publisher","DOI":"10.1159\/000320580"},{"key":"2025082512051758000_18.8.e266283.11","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63982","article-title":"Adult-Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case Report","volume":"197","author":"Chen","year":"2025","journal-title":"Am J Med Genet A"},{"key":"2025082512051758000_18.8.e266283.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2007.03.009"},{"key":"2025082512051758000_18.8.e266283.13","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M007727200"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266283","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T19:05:23Z","timestamp":1756148723000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":13,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8,25]]},"published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1136\/bcr-2025-266283"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266283","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]}}}