{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,21]],"date-time":"2025-12-21T13:46:35Z","timestamp":1766324795980,"version":"3.48.0"},"reference-count":12,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,11,30]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    This report describes a newborn presenting with severe hypertriglyceridaemia, later identified as having a novel mutation in the lipoprotein lipase (\n                    <jats:italic>LPL<\/jats:italic>\n                    ) gene. The infant was brought to a tertiary care unit with respiratory distress and febrile symptoms. Diagnostic investigations revealed significantly elevated serum triglyceride and cholesterol levels, alongside lipaemia retinalis, consistent with familial chylomicronaemia syndrome. Genetic analysis confirmed a homozygous variant in intron 5 of the\n                    <jats:italic>LPL<\/jats:italic>\n                    gene: c.776\u20135C&gt;G, the first of its kind reported globally. Management included a fat-restricted diet with medium-chain triglyceride supplementation, resulting in a dramatic biochemical improvement. This case highlights the importance of early genetic evaluation, precise diagnosis and individualised treatment plans in rare metabolic disorders. Regular monitoring and a multidisciplinary approach were integral to achieving positive outcomes and preventing severe complications.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-268368","type":"journal-article","created":{"date-parts":[[2025,12,21]],"date-time":"2025-12-21T13:45:23Z","timestamp":1766324723000},"page":"e268368","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant"],"prefix":"10.1136","volume":"18","author":[{"given":"P Anil","family":"Kumar","sequence":"first","affiliation":[{"name":"Paediatrics, Professor & Head of the Department, Dr NTR University of Health Sciences, Siddhartha medical college, Vijayawada, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5473-5992","authenticated-orcid":false,"given":"Hari","family":"Prasath C","sequence":"additional","affiliation":[{"name":"Paediatrics, Resident, Dr NTR University of Health Sciences, Siddhartha medical college, Vijayawada, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,21]]},"reference":[{"key":"2025122105451557000_18.12.e268368.1","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1016\/j.jacl.2023.09.012","article-title":"Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency","volume":"17","author":"Xia","year":"2023","journal-title":"J Clin Lipidol"},{"key":"2025122105451557000_18.12.e268368.2","doi-asserted-by":"crossref","unstructured":"Akesson LS , Burnett JR , Mehta DK , et al . Lipoprotein lipase deficiency presenting with neonatal perianal abscesses. 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