Síndrome de Klipper-Trenaunay-Weber con compromiso vesical y uterino tratado por vía endoscópica y endovascular / Klippel-Trenaunay-Weber syndrome with vesical and uterine involvement treated by endoscopic and endovascular routes

El síndrome de Klippel-Trenaunay-Weber (SKTW) es una rara malformación venosa que, en general afecta a los miembros inferiores y, más raramente, a los superiores. Se caracteriza por formaciones angiomatosas cutáneas, várices e hipertrofia del miembro afectado. El compromiso genitourinario es sumamente infrecuente. Se presenta el caso de una paciente de 14 años. Ingresó por hematuria macroscópica de 48 h de evolución y metrorragia con grave compromiso hemodinámico. Se encontraba en estudio por presentar un hemangioma en el miembro inferior izquierdo que se extendía hasta la región pelviana. La uretrocistofibroscopía demostró la presencia de múltiples lesiones angiomatosas diseminadas en forma amplia en la vejiga, algunas de ellas con sangrado activo. La angioresonancia mostró una voluminosa formación hipervascularizada en contacto con la pared vesical a la cual desplazaba y fístulas arteriovenosas a nivel pelviano y en el miembro inferior izquierdo confirmando el diagnóstico etiológico. Se realizó una embolización arterial selectiva de los territorios ilíacos interno y externo e inmediatamente después una endocoagulación láser de los focos angiomatosos sangrantes. La hematuria remitió completamente en las 24 h posteriores al procedimiento. La metrorragia asociada al SKTW fue controlada mediante la utilización de análogos LHRH y progestágenos.

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare venous malformation that generally affects the lower limbs and, more infrequently, the upper limbs. It is characterized by cutaneous angiomatous formations, varicose veins and hypertrophy of the affected limb. The involvement of the genitourinary tract is extremely infrequent. We expose the case of a 14 years old female patient who was admitted for macroscopic hematuria of 48 hours of evolution and metrorrhagia with severe hemodynamic decompensation. The patient was under study for presenting a hemangioma in the lower left limb that extended to the pelvic region. Urethrocystofibroscopy showed the presence of multiple wide-spread angiomatous lesions in the bladder, some of them with active bleeding. The angio-resonance showed a voluminous hypervascular formation in contact with the bladder wall showing several arteriovenous fistulas at the pelvic level and in the left lower limb confirming the etiological diagnosis. A selective arterial embolization of the internal and external iliac territories was performed and then, a laser endocoagulation of the bleeding angiomatous foci was carried out. The hematuria completely stopped within 24 hours later of the procedure. The metrorrhagia associated with KTWS was controlled by the use of LHRH analogs and progestogens.

Gestação em pacientes com síndrome de Klippel-Trenaunay: revisão da literatura / Pregnancy in Klippel-Trenaunay syndrome: review of literature

Klippel-Trenaunay syndrome is a rare congenital anomaly of unknown etiology, characterized by capillary and venous malformations, and hypertrophy of bone and soft tissue. Cases of pregnancy in women with Klippel-Trenaunay syndrome are rare and usually associated with adverse perinatal outcomes. Objective: To resume knowledge about pregnancy in the Klippel-Trenaunay syndrome as well as the syndrome so these patients be readily recognized and receive proper care to have a successful pregnancy outcome. Method: It was performed a review of the English literature, in the MEDLINE and Cochrane Library bases until October2009. Results: Only 17 case reports of pregnancy in women with Klippel-Trenaunay syndrome have been found. The evolutions of pregnant were variable and involve adverse events, with worsening of previous manifestations, bleeding, disseminated intravascular coagulation, thromboembolic events and pain. Conclusion: Pregnancy increases the risk of adverse events. Knowledge of the syndrome and multidisciplinary prenatal, intra and postpartum care areessential to successful outcome of pregnancy...

A síndrome de Klippel-Trenaunay é uma anomalia congênita de etiologiadesconhecida, caracterizada pela presença de malformações venosas e arteriais, hipertrofia de ossos e tecidos moles. São raros os relatos de gravidez em pacientes portadoras dessasíndrome, sendo associada com alto risco obstétrico. Objetivo: Resumir os conhecimentos acumulados sobre gestação em pacientes com síndrome de Klippel-Trenaunay, bem como sobre a própria síndrome, para permitir que essas pacientes sejam prontamente reconhecidas e recebam os cuidados necessários para um bom desfecho obstétrico. Método: Foi realizadapesquisa na literatura em língua inglesa, até outubro de 2009, na base de dados Medline e Cochrane Library. Resultados: Foram encontrados 17 casos relatados na literatura de gestaçõesem pacientes com síndrome de Klippel-Trenaunay. A evolução obstétrica das gestantes é variável e envolve eventos adversos, com piora das manifestações prévias, hemorragia, coagulação intravascular disseminada, eventos tromboembólicos e dor. Conclusão: A gestação agrava o risco de eventos adversos. O entendimento da síndrome e cuidado multidisciplinar pré-natal, intra e pós-parto são fundamentais para o bom desfecho da gestação...

Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

OBJECTIVE: Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. MATERIALS AND METHODS: From 1995 to 2005, 7 patients with KTWS were evaluated and the charts of these patients were reviewed. RESULTS: PatientsÆ median age was 19-years (range 4 to 46-years) and only 1 was female. The clinical presentation included genital deformities in 3 cases, hematuria in 2 and urethrorragia in 2, one of which associated with cryptorchidism and phimosis. Three patients had an association of pelvic and genital malformations, including 2 patients with hematuria due to vesical lesions and 1 patient with left ureterohydronephrosis due to a pelvic mass. Two patients had urethral lesions. Treatment included endoscopic laser coagulation for 1 patient with recurrent hematuria and 1 patient with urethrorrhagia, pelvic radiotherapy for 1 patient with hematuria and circumcision in 2 patients with genital deformities. One patient required placement of a double-J catheter to relieve obstruction. Hematuria and urethrorragia were safely and effectively controlled with laser applications. Circumcision was also effective. The patient treated with radiotherapy developed a contracted bladder and required a continent urinary diversion. CONCLUSIONS: Urogenital involvement in patients with KTWS is not rare and must be suspected in the presence of hematuria or significant cutaneous deformity of the external genitalia. Surgical treatment may be warranted in selected cases.

Angioqueratoma circunscripto neviforme asociado a síndrome de Klippel-Trenaunay: comunicación de un caso y revisión de la literatura / Circumscribed naeviform angiokeratoma associated to Klippel Trenaunay Syndrome: case report and literature review

El síndrome de Klipper-Trénaunay es una enfermedad congénita vascular poco frecuente de observar, de causa desconocida, que usualmente compromete miembros inferiores. Se caracteriza por una tríada: angioma plano (nevo flammeus), varicosidades e hipertrofia de partes blandas y óseas. Describimos el caso de una niña de 7 años de edad que poco después del nacimiento presenta placas rojo-azuladas, hiperqueratósicas, en miembro superior derecho, asociadas posteriormente a aumento de volumen de ese miembro (angioqueratoma circunscripto)

Síndrome de Klippel-Trenaunay-Weber e gestaçåo: relato de um caso / Klippel-Treunanay-Weber syndrome and pregnancy: a case report

Descrevemos aqui um caso raro de gravidez em uma mulher portadora da síndrome de Klippel-Trenaunay-Weber que evoluiu satisfatoriamente, com um recém-nascido de 3.500 g sem anomalias aparentes. Acompanha uma revisåo da literatura com destaque para os cuidados na gestaçåo, levando em conta a possibilidade de coagulopatia, insuficiência cardíaca e ruptura uterina naqueles casos onde há alteraçåo vascular do órgåo. Ressaltamos ainda, a possibilidade de ocorrência de parto vaginal desde que monitorado. O puerpério também deve ter cuidados especiais, já que existe o risco de coagulaçào intravascular disseminada. Contra-indicamos o uso de pílulas combinadas, porque estas têm maior relaçåo com fenômenos tromboembólicos

Dificultades diagnósticas en el síndrome de klippel-trenaunay-weber: presentación de cinco casos / Diagnostic difficulties in the klipper-trenauny-weber syndrome: comunication of five cases

El síndrome de Klippel-Trenaunay- Weber está constituido por una tríada de anomalías congénitas caracterizada por la presensia de nevus vascular, várice e hipertrofia ósea y de tejidos blandos. Esta rara enfermedad se clasifica dentro de las facomatosis y ocasionalmente se asocia a la neurofibromatosis, el síndrome de Sturge-Weber y la esclerosis tuberosa. Se describe la evolución de cinco pacientes, 3 varones y 2 hembras con edad promedio de 25,6 años (15-32 años), ingresados en el Servicio de Medicina 2 del Hospital Vargas de Caracas, desde 1980 a 1989, enfatizando las características de presentación del síndrome en nuestros casos y las entidades patológicas con las que puede ser confundido