{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T05:31:54Z","timestamp":1769146314355,"version":"3.49.0"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,1,9]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) are rare vascular malformation disorders characterised by distinct clinical features but overlapping pathogenic mechanisms, involving somatic mosaic mutations and dysregulation of the mTOR pathway. SWS typically presents with facial port-wine stains, leptomeningeal angiomas and glaucoma, while KTS is characterised by limb hypertrophy, varicosities and venous malformations without central nervous system involvement. We report an unusual case of a middle childhood boy with features of both syndromes, including extensive facial and truncal port-wine stains, seizures, glaucoma, limb hypertrophy and venous anomalies. Imaging and clinical findings confirmed the coexistence of SWS and KTS phenotypes, highlighting the diagnostic complexity of overlap syndromes. Exome sequencing did not reveal any pathogenic variants. Multidisciplinary management, including seizure control, glaucoma care, vascular interventions and psychosocial support, remains crucial. Recognition of such overlap syndromes broadens understanding of their pathogenesis and opens avenues for targeted therapies such as mTOR inhibitors.<\/jats:p>","DOI":"10.1136\/bcr-2025-269990","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T14:05:24Z","timestamp":1769090724000},"page":"e269990","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"first","affiliation":[{"name":"Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muskan P","family":"Verma","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepthi","family":"Krishna","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences - Jodhpur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amena","family":"Nayyer","sequence":"additional","affiliation":[{"name":"Paediatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"2026012206051304000_19.1.e269990.1","doi-asserted-by":"crossref","unstructured":"Solomon C , Comi A . Sturge-Weber syndrome: updates in translational neurology. Front Neurol 2024;15. doi:10.3389\/fneur.2024.1493873","DOI":"10.3389\/fneur.2024.1493873"},{"key":"2026012206051304000_19.1.e269990.2","doi-asserted-by":"crossref","unstructured":"Sasaki Y , Ishikawa K , Hatanaka KC , et al . Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population: List the full names and institutional addresses for all authors. Orphanet J Rare Dis 2023;18. doi:10.1186\/s13023-023-02893-1","DOI":"10.1186\/s13023-023-02893-1"},{"key":"2026012206051304000_19.1.e269990.3","doi-asserted-by":"publisher","DOI":"10.1097\/SAP.0b013e318062abc1"},{"key":"2026012206051304000_19.1.e269990.4","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1002\/acn3.51106","article-title":"Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations","volume":"7","author":"He","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"key":"2026012206051304000_19.1.e269990.5","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03527-w","article-title":"Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome","volume":"20","author":"El Hachem","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"2026012206051304000_19.1.e269990.6","doi-asserted-by":"crossref","unstructured":"Asghar F , Aqeel R , Farooque U , et al . Presentation and Management of Klippel-Trenaunay Syndrome: A Review of Available Data. Cureus 2020;12. doi:10.7759\/cureus.8023","DOI":"10.7759\/cureus.8023"},{"key":"2026012206051304000_19.1.e269990.7","doi-asserted-by":"crossref","unstructured":"Allen D , Bhat G , Conner M . P285: Double somatic mosaic for pathogenic variants in PIK3CA and GNAQ. Genetics in Medicine Open 2024;2. doi:10.1016\/j.gimo.2024.101181","DOI":"10.1016\/j.gimo.2024.101181"},{"key":"2026012206051304000_19.1.e269990.8","doi-asserted-by":"crossref","first-page":"51","DOI":"10.4103\/0378-6323.125507","article-title":"Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb","volume":"80","author":"Mandal","year":"2014","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"2026012206051304000_19.1.e269990.9","doi-asserted-by":"crossref","first-page":"101","DOI":"10.7241\/ourd.20181.33","article-title":"Overlapping of Sturge Weber syndrome and Klippel Trenaunay syndrome: A new case report","volume":"9","author":"Alouani","year":"2018","journal-title":"Our Dermatol Online"},{"key":"2026012206051304000_19.1.e269990.10","first-page":"86","article-title":"Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy","volume":"16","author":"Kentab","year":"2016","journal-title":"Sudan J Paediatr"},{"key":"2026012206051304000_19.1.e269990.11","doi-asserted-by":"crossref","unstructured":"Van Trigt WK , Kelly KM , Hughes CCW . GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models. Front Hum Neurosci 2022;16. doi:10.3389\/fnhum.2022.1006027","DOI":"10.3389\/fnhum.2022.1006027"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269990","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T14:05:25Z","timestamp":1769090725000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269990"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,22]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-269990"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269990","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}