Conservative management of knee arthropathy in a patient with Klippel Trenaunay syndrome / Manejo conservador da artropatia do joelho em paciente com síndrome de Klippel-Trenaunay

Abstract Klippel-Trenaunay syndrome (KTS) is a rare vascular malformation characterized by capillary malformation, venous malformations, and soft tissue or bone hypertrophy that affect the extremities in most cases. Knee or hip arthropathy are common associated conditions and cause serious disability. We present the case of a patient with a diagnosis of KTS and severe knee arthropathy. A 34-year-old man with KTS was referred to our hospital with severe knee arthropathy, with the joint fixed in a 90° position. CT Angiography and MRI of the left leg showed important varicose development of the superficial venous system with intraarticular vessels. After discussion of the case by a multidisciplinary committee, the patient was enrolled on a physiotherapy program and had achieved significant improvements in movement and quality of life at 12-month follow-up. Treatment of KTS is primarily conservative and a multidisciplinary approach is necessary.

Resumo A síndrome de Klippel-Trenaunay (SKT) é uma malformação vascular rara caracterizada por malformação capilar, malformações venosas e hipertrofia de tecidos moles ou ósseos que afetam as extremidades na maioria dos casos. A artropatia do joelho ou do quadril é uma condição comumente associada e causa sérias deficiências. Apresentamos o caso de um paciente com diagnóstico de SKT e artropatia grave do joelho. Um homem de 34 anos com SKT foi encaminhado ao nosso hospital com artropatia grave do joelho com articulação fixa na posição de 90 °. A angiotomografia e a ressonância magnética da perna esquerda mostraram importante desenvolvimento varicoso do sistema venoso superficial com vasos intra-articulares. Após o caso ser discutido em um comitê multidisciplinar, o paciente foi incluído em um programa de fisioterapia, obtendo uma melhora significativa nos movimentos e na qualidade de vida após 12 meses de acompanhamento. O tratamento da SKT é principalmente conservador e exige uma abordagem multidisciplinar.

Klippel-Trenaunay and Parkes-Weber syndromes: two case reports / Síndromes de Klippel-Trenaunay e Parkes-Weber: dois relatos de caso

Abstract Parkes-Weber syndrome is a congenital vascular disease that comprises capillary, venous, lymphatic, and arteriovenous malformations. Although Parkes-Weber syndrome is a clinically distinct entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome, which consists of a triad of malformations involving the capillary, venous, and lymphatic vessels, without arteriovenous fistulas. Both syndromes are generally diagnosed with Doppler ultrasound and confirmed by magnetic resonance angiography. The aim of this study is to describe one case of Klippel-Trenaunay syndrome, in a 36-year-old patient, and one case of Parkes-Weber syndrome, in a 21-year-old patient. We review the literature in order to discuss the possible causes and consequences of these diseases related to venous hypertension and angiodysplasia, taking a clearer approach to their differences, and discussing their treatment.

Resumo A síndrome de Parkes-Weber é uma doença vascular congênita que consiste em malformações capilares, venosas, linfáticas e arteriovenosas. Embora seja uma entidade clinicamente distinta com complicações graves, essa síndrome ainda é frequentemente diagnosticada erroneamente como síndrome de Klippel-Trenaunay, que consiste em uma tríade de má formação nos vasos capilares, venosos e linfáticos, sem fístula arteriovenosa. Ambas as síndromes são geralmente diagnosticadas através de ultrassom Doppler e confirmadas pela angiografia por ressonância magnética. O objetivo deste estudo é descrever um caso de síndrome de Klippel-Trenaunay em um paciente de 36 anos de idade e um caso de síndrome de Parkes-Weber em uma paciente de 21 anos. A literatura foi revisada com o objetivo de discutir as possíveis causas e consequências dessa doença e sua associação à hipertensão venosa e angiodisplasia. O presente trabalho também levanta discussão a respeito das diferenças sintomatológicas de ambas as síndromes e seus respectivos tratamentos.

Manifestações musculoesqueléticas na síndrome de Klippel-Trenaunay / Musculoskeletal manifestations in syndrome Klippel-Trenaunay

A síndrome de Klippel-Trenaunay é uma doença congênita rara de etiologia não definida, caracterizada pela presença da tríade: manchas vinho do porto, malformações venosas ou veias varicosas e hipertrofia óssea e/ou tecidual. Acomete mais frequentemente os membros inferiores. O tratamento em geral é conservador, sendo as intervenções limitadas ao tratamento das complicações. Objetivo: Apresentar relato de caso de uma criança com manifestações musculoesqueléticas da síndrome avaliada por equipe multiprofissional, composta pelo serviço social, psicologia, fisioterapia, terapia ocupacional, fonoaudiologia, enfermagem e médico fisiatra. Método: Após avaliação foi definido trabalhar consciência e correção da postura assim como a percepção corporal, realização de atividade em ortostatismo, treino de equilíbrio, dissociação de cinturas e trocas posturais. Resultados: Paciente participou dos atendimentos multiprofissionais por dois meses, obteve melhor estabilidade da marcha, passando a ter marcha independente na comunidade, com velocidade maior e menor número de quedas. Conclusão: Recebeu alta com objetivos atingidos e pais sensibilizados quanto à importância de manter o seguimento multiprofissional e seguir os objetivos traçados em domicílio

Klippel-Trenaunay syndrome is a rare congenital disease with undefined etiology characterized by the presence of the triad: port wine stains, venous malformations or varicose veins, and bone and/ or tissue hypertrophy. It affects the lower limbs more commonly. Treatment is generally conservative, with interventions limited to the treatment of complications. Objective: To present a case report of a child with musculoskeletal manifestations of the syndrome evaluated by a multiprofessional team, composed of social work, psychology, physiotherapy, occupational therapy, phonoaudiology, nursing and a physiatrist. Methods: After evaluation, it was decided that awareness and correction of posture as well as body perception, performance of orthostatic activity, balance training, dissociation of waists, and postural changes would be approached by the multiprofessional team. Results: The patient received multiprofessional care for two months, obtained better gait stability, and had independent gait in the community, with higher speed and lower number of falls. Conclusion: She was discharged after achieving the goals and after her parents were sensitized regarding the importance of maintaining the multiprofessional follow up and follow the goals set for homecare

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.

Klippel-Trenaunay syndrome in children: Initial experience with the Nd-YAG Laser

Klippel-Trenaunay Syndrome [KTS] is a relatively uncommon disease. There is still no common consensus as to the management protocols, especially in children. The purpose of this study was to describe a series of patients with KTS and to report our initial experience in using the Nd-YAG laser as a new modality for treatment of the bleeding cutaneous capillary vascular lesions. We reviewed the clinical characteristics and outcomes in 8 patients [5 males and 3 females] with KTS who were managed during the period from January 1998 to August 2003 at the Pediatric Surgery Unit, Faculty of Medicine, Alexandria University. All patients presented with cutaneous bleeding to which single or repeated Nd-YAG laser photo coagulation sessions were conducted. Serial scanograms, arterial and, venous doppler studies were also performed. The male to female ratio was 5:3. All patients had visible varicosities, nevi and all the three characteristics of KTS. Bleeding was the main presenting symptom. Nd-YAG laser was used successfully for management of this complication. Nd-YAG laser as a new application in children suffering from KTS, with improvement of bleeding as an encountered complication.

Síndrome de Klippel Trenaunay Servelle en pediatría: clínica quirúrgica y tratamiento / Klippel Trenaunay Servelle syndrome in pediatrics

Es importante definir el concepto de síndrome de Klippel Trenaunay Servelle. Surge de observaciones en neonatología y pediatría durante más de 20 años, quedando claramente establecido sus diferencias anatómicas, su fisiopatología y biocronograma. Se presenta una clasificación de las anomalías venosas intrínsecas o extrínsecas más fercuentes, la asimetría del crecimiento, su evaluación y las posibilidades terapéuticas (el cerclaje venoso, en particular popliteo, el arresto epifisario transitorio, el tratamiento de las deformaciones axiales y la elongación de extremidades). Se hace una mención del tratamiento específico sobre le sistema venolinfático

Hamartosis y asimetría corporal / Harmartosis and body asymetric

En el presente trabajo se ha ilustrado 5 enfermedades que tienen en común la hipertrofia asimétrica de miembros: Klippel-Treanunay-Weber, Proteus, Ollier, Maffucci y Neurofibromatosis. Estas cinco entidades son poco conocidas. Se requiere mostrar sus características clínico-radiológicas mejorando así el diagnóstico y tratamiento de las mismas. La etiología en todos los casos es desconocida. No se ha encontrado transmisión hereditaria, excepto en la Neurofibromatosis. No van asociadas a retardo mental. Las características clínicas son: en el sindrome Klippel-Trenaunay-Weber: Hemangiomas, hiertrofia ósea y/o de tejidos blandos, varicosidades. En el sindrome proteus: gigantismo de manos y/o pies, hipertrofia ósea y/o de tejidos blando. En la enfermedad de Ollier: Encontromas.En el sindrome Maffucci: Encondromas y hemangiomas. Y en la Neurofibromatosis, manchas café con leche, nerufibromas, hipertrofia ósea y/o de tejidos blandos, escoliosis, angulación de la tibia. El pronóstico depende de las complicaciones, pero generalmente es benigno; en la mayoría de los casos, compatible con la vida normal. Los exámenes radiológicos son muy importantes para el diagnóstico y tratamiento, observándose imágenes de ensanchamiento, alargamiento, angulación, acortamiento óseo y anomalias vasculares entre otras. El tratamiento depende del cuadro de cada paciente siendo el rol más importante el del cirujano ortopédico, despús de haberse llegado a un diagnóstico multidisciplinario