{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T12:04:30Z","timestamp":1785326670122,"version":"3.55.0"},"reference-count":14,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,7,19]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>Orbital venolymphatic malformations (OVLM) are rare congenital vascular anomalies that may cause progressive proptosis, visual loss, facial disfigurement and marked psychosocial burden. Management is challenging especially when the disease is multifocal, diffuse and with limited response to conventional therapies. We describe a school-aged child with a right eye refractory extensive orbital venolymphatic malformation leading to marked visual impairment and disfigurement despite multiple prior sclerotherapy sessions. After multidisciplinary evaluation, oral sirolimus was initiated with written informed consent from the parents in a refractory setting. After 9 months of treatment, visual acuity improved from counting fingers at 3 metres to 6\/12, proptosis reduced substantially, conjunctival chemosis resolved completely, ocular motility became full with minimal residual hypotropia and the palatal lesion resolved, with mild residual lip hypertrophy. At 19 months of follow-up after initiation of therapy, visual acuity had further improved to 6\/9\u22122, MRI demonstrated near-complete radiological regression of the lesion, no clinically significant adverse effects or recurrence. The child resumed normal activities. This case highlights the potential role of systemic mechanistic target of rapamycin (mTOR) inhibition in complex, refractory orbital venolymphatic malformations and highlights careful patient selection and long-term follow-up.<\/jats:p>","DOI":"10.1136\/bcr-2026-274851","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T11:15:24Z","timestamp":1785323724000},"page":"e274851","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Significant clinical, functional and radiological response with sirolimus in refractory complex orbital venolymphatic malformation"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8561-8306","authenticated-orcid":false,"given":"Ankita","family":"Aishwarya","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Ratan Jyoti Netralaya Private Limited, Gwalior, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-1113","authenticated-orcid":false,"given":"Rachna","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, UP, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaibhav","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, UP, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,7,29]]},"reference":[{"key":"2026072904151651000_19.7.e274851.1","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1001\/jamadermatol.2021.3459","article-title":"Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial","volume":"157","author":"Maruani","year":"2021","journal-title":"JAMA Dermatol"},{"key":"2026072904151651000_19.7.e274851.2","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-025-04151-y","article-title":"Personalized sirolimus regimen for vascular malformations: a retrospective analysis of VASE cohort","volume":"21","author":"Seront","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"2026072904151651000_19.7.e274851.3","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.173095","article-title":"Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations","volume":"8","author":"Seront","year":"2023","journal-title":"JCI Insight"},{"key":"2026072904151651000_19.7.e274851.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2019.06.217"},{"key":"2026072904151651000_19.7.e274851.5","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2015-3257","article-title":"Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies","volume":"137","author":"Adams","year":"2016","journal-title":"Pediatrics"},{"key":"2026072904151651000_19.7.e274851.6","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-019-1118-1","article-title":"The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies","volume":"14","author":"Ozeki","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2026072904151651000_19.7.e274851.7","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1097\/IOP.0000000000001518","article-title":"The Use of Sirolimus for Treatment of Orbital Lymphatic Malformations: A Systematic Review","volume":"36","author":"Shoji","year":"2020","journal-title":"Ophthalmic Plast Reconstr Surg"},{"key":"2026072904151651000_19.7.e274851.8","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1097\/ICU.0000000000000585","article-title":"Medical and sclerosing agents in the treatment of orbital lymphatic malformations: what\u2019s new?","volume":"30","author":"Lam","year":"2019","journal-title":"Curr Opin Ophthalmol"},{"key":"2026072904151651000_19.7.e274851.9","doi-asserted-by":"crossref","unstructured":"Alba-Linero C , Garc\u00eda-Lorente M , Rachwani-Anil R , et al . Treatment of orbital lymphatic malformation with oral sirolimus: a case report. ABO. 2023. Available: https:\/\/www.aboonline.org.br\/details\/6341\/en-US\/treatment-of-orbital-lymphatic-malformation-with-oral-sirolimus--a-case-report","DOI":"10.5935\/0004-2749.20230072"},{"key":"2026072904151651000_19.7.e274851.10","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1007\/s00270-014-0971-5","article-title":"Percutaneous sclerotherapy of congenital slow-flow vascular malformations of the orbit","volume":"38","author":"Chiramel","year":"2015","journal-title":"Cardiovasc Intervent Radiol"},{"key":"2026072904151651000_19.7.e274851.11","doi-asserted-by":"crossref","first-page":"3529","DOI":"10.1007\/s00405-023-07991-1","article-title":"Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review","volume":"280","author":"Saibene","year":"2023","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"2026072904151651000_19.7.e274851.12","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1593\/neo.111570","article-title":"Rapamycin inhibits lymphatic endothelial cell tube formation by downregulating vascular endothelial growth factor receptor 3 protein expression","volume":"14","author":"Luo","year":"2012","journal-title":"Neoplasia"},{"key":"2026072904151651000_19.7.e274851.13","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/dth.12208","article-title":"Treatment of complex periorbital venolymphatic malformation in a neonate with a combination therapy of sirolimus and prednisolone","volume":"28","author":"Kim","year":"2015","journal-title":"Dermatol Ther"},{"key":"2026072904151651000_19.7.e274851.14","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1080\/01676830.2018.1436569","article-title":"Sirolimus-induced regression of a large orbital lymphangioma","volume":"38","author":"Lagr\u00e8ze","year":"2019","journal-title":"Orbit"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-274851","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T11:15:26Z","timestamp":1785323726000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-274851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":14,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026,7,29]]},"published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1136\/bcr-2026-274851"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-274851","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]}}}