Klippel - Trenaunay – Weber syndrome. Case report
Abstract
Objective: To characterize a case of Klippel - Trenaunay - Weber Syndrome (KTW). Case description: We present a 22-year-old patient with a history of epilepsy who also has vascular malformations, skin spots in port wine and soft tissue hypertrophy in the left hemicibody, due to her clinical characteristics and imaging findings, she is diagnosed with KTW syndrome. Conclusions: It is a rare congenital syndrome, there are very few cases reported in the world, we show the importance of clinical characteristics in these patients for a correct diagnosis and timely treatment.
Downloads
Disciplines:
GeneticsReferences
AL Patel, WA Shaikh, KS Saini, YA Madhusudan. Case report: Klippel Trénaunay Syndrome. JAPI, february 2006: 1-3.
Maritza Estrada Martínez, Guadalupe M.L. Guerrero Avendaño, Rocío Enríquez García, Juan González de la Cruz. Síndrome de Klippel-Trenaunay. Hallazgos clínicos y de imagen. Anales de Radiología México 2006;3:245-251: 1-7.
Hernan Boló, Lidia María Ortiz-C, Gloria Celeste Samudio-D, Jorge Ruiz-Diaz. Síndrome de Klippel-Trenaunay asociado a litiasis renal. Reporte de un caso pediátrico y revisión de la literatura. Pediatr. (Asunción), Vol. 40; N° 3; diciembre 2013: 247 – 251.
Pedro Felipe Parra Velasco, Gonzalo Guerra, Abdelayis Yusef. Rectorragía en el Síndrome de Klippel-Trenaunay- Weber: Presentación de un caso. CIMEL 2008 Vol. 13, Nº 2: 2-5.
Y. Hu, L. Li, S. B. Seidelmann, A. A. Timur, P. H. Shen, D. J. Driscoll and Q. K. Wang. Identification of Association of Common AGGF1 Variants with Susceptibility for Klippel-Trenaunay Syndrome Using the Structure Association Program. Annals of Human Genetics (2008) 72,636–643.
Santa Cruz Biotechnology, inc. VG5Q (C-20): sc-47569. Disponible en: http://datasheets.scbt.com/sc-47569.pdf
Sharma D, Lamba S, Pandita A, Shastri S. Klippel-trénaunay syndrome - a very rare and interesting syndrome. Clin Med Insights Circ Respir Pulm Med. 2015;9:1–4. Published 2015 Mar 5. doi:10.4137/CCRPM.S21645.
P. Gimeno Pita, P. Pérez Martín, J. López-Pisóna, M. Romeo Uleciab, N. Galeano Ricañoc, M. Marco Tello, Et al. Síndrome de Klippel-Trenaunay: a propósito de tres nuevas observaciones. Anales españoles de pediatría. VOL. 53, N.o 4, 2000: 1-5.
Janniger CK. Klippel-Trenaunay-Weber. Medscape Reference. 2016; http://emedicine.medscape.com/article/1084257-overview.
Samo S, Sherid M, Husein H, Sulaiman S, Yungbluth M, Vainder JA. Klippel-Trenaunay Syndrome Causing Life-Threatening GI Bleeding: A Case Report and Review of the Literature. Case Rep Gastrointest Med. 2013;2013:813653. doi:10.1155/2013/813653
Kocaman O, Alponat A, Aygün C, Gürbüz Y, Sarisoy HT, Celebi A, Sentürk O, Hülagü S. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klippel-Trenaunay syndrome: a case report and literature review. Turk J Gastroenterol. 2009 Mar;20(1):62-6.
Husmann DA, Rathburn SR, Driscoll DJ. Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. J Urol. 2007 Apr;177(4):1244-9
Diverse manifestations and management options in Klippel-Trenaunay syndrome: A single centre 10-year experience. Harinatha Sreekar, Sandeep Dawre, Kiran S. Petkar, Rahul B. Shetty, Shashank Lamba, Sukriya Naik & Ashish K. Gupta. J Plast Surg Hand Surg, 2013; 47: 303–307
Lee BB, Do YS, Byun HS, Choo IW, Kim DI, Huh SH. Advanced management of venous malformation with ethanol sclerotherapy: mid-term results. J Vasc Surg. 2003;37:533–8.
Hernan Boló, Lidia María Ortiz-C, Gloria Celeste Samudio-D, Jorge Ruiz-Diaz. Síndrome de Klippel-Trenaunay asociado a litiasis renal. Reporte de un caso pediátrico y revisión de la literatura. Pediatr. (Asunción), Vol. 40; N° 3; Diciembre 2013: 247 – 251.
.png)
