Ocular manifestations of Klippel-Trenaunay Syndrome: A Case Report
DOI:
https://doi.org/10.36557/2674-8169.2026v8n3p1203-1213Keywords:
Klippel-Trenaunay syndrome, Ocular manifestations, Vascular malformations, Port-wine stain, Case reportAbstract
Klippel-Trenaunay syndrome (KTS) is a sporadic congenital disorder, which is clinically diagnosed by the presence of two features of its classical triad of port-wine stains, varicose veins and bone and/or soft tissue hypertrophy. Mutations in the Phosphatadylinositol-4-5-biphosphate 3 Kinase Catalytic subunit (PIK3CA) gene have also been identified in this condition, therefore, it is classified as a PIK3CA-related overgrowth spectrum . Ocular changes associated with KTS are uncommon and may include vascular, orbit, iris, retina, choroid and optic nerve abnormalities. A case involving a child with KTS referred from a general physician to ophthalmologic examination is reported. Examination revealed a faint reddish discolouration over the left face. To avoid errors in management, it is important to recognize the syndrome. Because multiple organs are involved in KTS, a multidisciplinary care can be necessary to manege its complicattions and optimize overall outcomes.
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References
Klippel M, Trenaunay P. The Noevus variques osteohypertrophicus. Arch Gen Med (Paris) 1900;3:641-72.
Lacerda L da S, Alves UD, Zanier JF, Machado DC, Camilo GB, Lopes AJ. Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations. Radiol Res Pract. 2014;2014:947451.
Shaikh OH, Kumbhar US, Jain A, Chakkalakkoombil SV. Klippel-Trenaunay syndrome in a young patient with the involvement of gastrointestinal and genitourinary tracts: an unusual and rare presentation. BMJ Case Rep. 2021 Mar 2;14(3):e239420. doi: 10.1136/bcr-2020-239420.
Brodsky MC. Circumpapillary choroidal "haemorrhoid" in Klippel-Trenauney-Weber syndrome. Br J Ophthalmol. 2007 Mar;91(3):394.
Brodsky MC, Baker RS, Hamed LM. (1996). Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease. In: Pediatric Neuro-Ophthalmology. Springer, New York, NY.
Moreira Júnior CA, Moreira Neto CA, Amadeu NT, Ghem MRD. Ophthalmological manifestation of the Klippel-Trenaunay syndrome. Rev Bras Oftalmol 2016;75(5):405-8.
Lemos RD, Hamade AMA, Araujo DC, Hall LN, Berezovsky M, Nascimento MA. Klippel-Trenaunay Syndrome Ocular Manifestations: A Case Report. J Ckin Exp Ophthalmol 2024; 15(4):985.
Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM. Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? Biomed Res Int. 2015;2015:786519.
Leon CA, Braun Filho LR, Ferrari MD, Guidolin BL, Maffessoni BJ. Síndrome de Klippel-Trenaunay - Relato de caso. An Bras Dermatol. 2010;85(1):93-6.
Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P Klippel-Trenaunay syndrome: spectrum and management, Mayo Clinic Proceedings.1998;73(1);28-36.
Gloviczki P, Stanson AW, Stickler GB, Johnson CM, Toomey BJ, Meland NB, Rooke TW, Cherry KJ Jr. Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. Surgery. 1991 Sep;110(3):469-79.
Pellacani A, Rozell-Shannon L, Negrello S, Di Bartolomeu M, Anesi A, Femino R, Mariotti I. The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly. Eur J Plast Surg 2022;45:997–1013.
Brod RD, Shields JA, Shields CL, Oberkircher OR, Sabol LJ. Unusual retinal and renal vascular lesions in the Klippel-Trenaunay-Weber syndrome. Retina. 1992;12(4):355-8..
Good WV, Hoyt CS. Optic nerve shadow enlargement in the Klippel-Trenaunay-Weber syndrome. J Pediatr Ophthalmol Strabismus. 1989 Nov-Dec;26(6):288-9.
Olcaysu OO, Altun A, Olcaysu E, Marzıoğlu Ozdemır E, Demır B. Unilateral cataract and vitreoretinopathy in a case with klippel-trenaunay syndrome. Case Rep Ophthalmol Med. 2014;2014:312030.
Spoor TC, Kennerdell JS, Maroon JC, Hepler R, Krohel G. Pneumosinus dilatans, Klippel-Trenaunay-Weber syndrome, and progressive visual loss. Annals of Ophthalmology. 1981;13(1):105–108.
Bothun ED, Kao T, Guo Y, Christiansen SP. Bilateral optic nerve drusen and gliomas in Klippel-Trenaunay syndrome. J AAPOS. 2011 Feb;15(1):77-9.
Lambert SR, Hoyt CS, Narahara MH. Optic nerve hypoplasia. Surv Ophthalmol. 1987 Jul-Aug;32(1):1-9. doi: 10.1016/0039-6257(87)90069-5
Al-Anbagi U, Elmakaty I, Al-Zoubi HM, Nashwan AJ, Sharif M. Klippel-Trenaunay Syndrome: A Case Study of Severe Anemia in a Rare Vascular Disorder. Cureus. 2024 Dec 15;16(12):e75725.
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Copyright (c) 2026 Lara Linhares Pierre, Lucas Linhares Pierre, Erika Teles Linhares Pierre, Virna Fonteles de Sousa Fonteles, Paulo de Tarso Ponte Pierre-Filho
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