{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:15:32Z","timestamp":1758845732416,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,17]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neonatal hypotonia, feeding difficulties and hypogonadism. Early diagnosis is crucial but often delayed, as initial features may mimic birth asphyxia or sepsis, especially in resource-limited settings. We report a term male infant, small for gestational age, who presented with respiratory distress, stupor and hypotonia. Birth asphyxia and sepsis were excluded based on normal cord gases, a negative sepsis screen and the clinical course. Thyroid function and cranial ultrasound were normal. Antenatal polyhydramnios and growth restriction, along with persistent hypotonia, poor suck and bilateral cryptorchidism, raised early suspicion of PWS. On day 5, worsening respiratory effort prompted a meningitis workup, which was negative. Methylation-specific multiplex ligation-dependent probe amplification (MLPA) confirmed a fully methylated MAGEL2\/SNRPN region without 15q11.2-q13 deletion or duplication. In neonates with persistent hypotonia and hypogonadism, early genetic testing should be considered. MLPA enables definitive diagnosis of PWS in the neonatal period and guides early intervention.<\/jats:p>","DOI":"10.1136\/bcr-2025-267940","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T10:30:26Z","timestamp":1758796226000},"page":"e267940","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Beyond the usual suspects: neonatal presentation of Prader-Willi syndrome"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3793-9751","authenticated-orcid":false,"given":"Abhishek","family":"Suresh Gowdar","sequence":"first","affiliation":[{"name":"Neonatology, AIIMS Raipur, Raipur, Chhattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phalguni","family":"Padhi","sequence":"additional","affiliation":[{"name":"Neonatology, AIIMS Raipur, Raipur, Chhattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0742-9974","authenticated-orcid":false,"given":"Gujarathi","family":"Akhila","sequence":"additional","affiliation":[{"name":"Pediatrics, AIIMS Raipur, Raipur, Chhattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"2025092503301092000_18.9.e267940.1","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1097\/01.JAA.0000000000000079","article-title":"A review of Prader-Willi syndrome","volume":"38","author":"Metzler","year":"2025","journal-title":"JAAPA"},{"key":"2025092503301092000_18.9.e267940.2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"2025092503301092000_18.9.e267940.3","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/S0891-5245(02)00064-0","article-title":"The genetics, diagnosis, and management of Prader-Willi syndrome","volume":"16","author":"Nativio","year":"2002","journal-title":"J Pediatr Health Care"},{"key":"2025092503301092000_18.9.e267940.4","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/jhg.2012.148","article-title":"The proportion of uniparental disomy is increased in Prader\u2013Willi syndrome due to an advanced maternal childbearing age in Korea","volume":"58","author":"Yoon Cho","year":"2013","journal-title":"J Hum Genet"},{"key":"2025092503301092000_18.9.e267940.5","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/jhg.2011.59","article-title":"Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors","volume":"56","author":"Matsubara","year":"2011","journal-title":"J Hum Genet"},{"key":"2025092503301092000_18.9.e267940.6","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00011"},{"key":"2025092503301092000_18.9.e267940.7","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ajmg.a.36812","article-title":"Prader-Willi syndrome can be diagnosed prenatally","volume":"167A","author":"Gross","year":"2015","journal-title":"Am J Med Genet A"},{"key":"2025092503301092000_18.9.e267940.8","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22052705","article-title":"Prader-Willi Syndrome and Hypogonadism: A Review Article","volume":"22","author":"Noordam","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2025092503301092000_18.9.e267940.9","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.arcped.2008.12.017","article-title":"Apn\u00e9es s\u00e9v\u00e8res diff\u00e9r\u00e9es en p\u00e9riode n\u00e9onatale et syndrome de Prader-Willi : \u00e0 propos de 2 cas","volume":"16","author":"Vint\u00e9joux","year":"2009","journal-title":"Archives de P\u00e9diatrie"},{"key":"2025092503301092000_18.9.e267940.10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0101012","article-title":"Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome","volume":"9","author":"Cohen","year":"2014","journal-title":"PLoS One"},{"key":"2025092503301092000_18.9.e267940.11","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/34.3.379"},{"key":"2025092503301092000_18.9.e267940.12","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1159\/000111795","article-title":"Early Diagnosis and Multidisciplinary Care Reduce the Hospitalization Time and Duration of Tube Feeding and Prevent Early Obesity in PWS Infants","volume":"69","author":"Bacher\u00e9","year":"2008","journal-title":"Horm Res Paediatr"},{"key":"2025092503301092000_18.9.e267940.13","unstructured":"Driscoll DJ , Miller JL , Cassidy SB . Prader-willi syndrome. In: Adam MP , Feldman J , Mirzaa GM , et al , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2024: 1993\u20132025. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1330\/"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267940","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T10:30:30Z","timestamp":1758796230000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":13,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,25]]},"published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1136\/bcr-2025-267940"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267940","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}