{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T19:01:36Z","timestamp":1769108496657,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,4,16]]},"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:p>Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia. She underwent a rectal biopsy for this, which was highly suggestive of Hirschprung\u2019s disease. Following surgery, her abdominal distension and feed intolerance were settled and sugar control was improved. We present a rare association of Hirschsprung\u2019s disease with Beckwith-Wiedemann syndrome. To the best of our knowledge, this association has not been previously reported and this added to the difficulty in managing hyperinsulinemic hypoglycaemia in our patient.<\/jats:p>","DOI":"10.1136\/bcr-2020-235121","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T04:21:10Z","timestamp":1587961270000},"page":"e235121","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Rare association of Beckwith-Wiedemann syndrome with Hirschsprung\u2019s disease in an infant with hypoglycemia"],"prefix":"10.1136","volume":"13","author":[{"given":"Nikhil","family":"Shah","sequence":"first","affiliation":[{"name":"Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3399-3235","authenticated-orcid":false,"given":"Anuradha","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaman","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sagar","family":"Lad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jehangir Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,4,26]]},"reference":[{"key":"2025082622455230000_13.4.e235121.1","unstructured":"Shuman C , Beckwith JB , Weksberg R . Beckwith\u2010Wiedemann Syndrome. In: Pagon RA , Adam MP , Ardinger HH , eds. GeneReviews(R). Seattle, WA: University of Washington, 1993."},{"key":"2025082622455230000_13.4.e235121.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2017.166"},{"key":"2025082622455230000_13.4.e235121.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.03.057"},{"key":"2025082622455230000_13.4.e235121.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2009.00547.x"},{"key":"2025082622455230000_13.4.e235121.5","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ejmg.2015.11.008","article-title":"Recommendations of the scientific Committee of the Italian Beckwith-Wiedemann syndrome association on the diagnosis, management and follow-up of the syndrome","volume":"59","author":"Mussa","year":"2016","journal-title":"Eur J Med Genet"},{"key":"2025082622455230000_13.4.e235121.6","doi-asserted-by":"publisher","DOI":"10.1053\/sp.2000.6366"},{"key":"2025082622455230000_13.4.e235121.7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1515\/jpem-2013-0390","article-title":"The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation","volume":"28","author":"Senniappan","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082622455230000_13.4.e235121.8","doi-asserted-by":"crossref","DOI":"10.1186\/1687-9856-2014-18","article-title":"Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia","volume":"2014","author":"Al-Zubeidi","year":"2014","journal-title":"Int J Pediatr Endocrinol"},{"key":"2025082622455230000_13.4.e235121.9","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1159\/000443959","article-title":"Late presentation of fulminant necrotizing enterocolitis in a child with hyperinsulinism on octreotide therapy","volume":"86","author":"Hawkes","year":"2016","journal-title":"Horm Res Paediatr"},{"key":"2025082622455230000_13.4.e235121.10","unstructured":"Parisi MA . Hirschsprung Disease Overview. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae [Internet]. Seattle, WA: University of Washington, 2002: 1993\u20132019."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-235121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T05:46:01Z","timestamp":1756273561000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-235121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,4,26]]},"published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1136\/bcr-2020-235121"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-235121","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4]]}}}