A Rare Case of Klippel Trenaunay Syndrome with Von Willebrand Factor Deficiency and Multiple Accessory Spleens: A Case Report and Brief Literature Review.

Klippel Trenaunay Syndrome (KTS) is an uncommon inherited syndrome identified by venous varicosities and capillary abnormalities. von Willebrand Disease is the most common inherited hemorrhage disturbance in humans, leading to insufficiency in von Willebrand Factor, which is a complex multimeric protein with two functions: it forms a bridge between the platelets and injured vascular areas and it attaches factor VIII and stabilizes it. We present a 13-year-old son with a typical clinical manifestation of KTS, including "port-wine stains" as capillary malformation, venous malformation, and hypertrophy of the left lower extremity, who also suffers from von Willebrand Disease type 3. He has been suffering from these two rare conditions since birth. The occurrence of KTS with von Willebrand Factor deficiency in a patient has so far not been reported, which may propose a mutation in the putative common regulatory gene that caused this uncommon phenotype.

Fetal Klippel-Trenaunay-Weber Syndrome: Antenatal Diagnosis and Postnatal Management.

Context: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare disease characterized by a triad of venous malformations, vascular skin nevus and asymmetric hypertrophy of bone and soft tissue. The spectrum of disease in utero varies from asymptomatic nevus flammeus to life threatening complications like Kasabach-Merritt phenomena. Aim: The aim of this study was to review our experience of antenatal diagnosis of KTWS and it's postnatal management. Settings and Design: This was a retrospective observational study of all pregnant women who were antenatally diagnosed with KTWS and postnatally confirmed at a tertiary care center in north India between 2012 and 2021. Subjects and Methods: The electronic medical records were reviewed and data were collected regarding demographic information, obstetric history, clinical presentation, sonographic findings, mode of delivery, fetal outcome, and follow-up. Results: During the study period, four fetuses were diagnosed with KTWS on sonography. Three women were multigravida whereas one was a primigravida. Two women opted for medical termination of pregnancy and one each had liveborn child and an intra-uterine fetal death. KTWS was confirmed in all cases. The liveborn child underwent treatment for the vascular malformation and is alive at 4 years of age. Conclusions: This study attempts to add onto the available literature regarding the spectrum of prenatal presentations of KTWS. It emphasizes the importance of prenatal diagnosis and follow-up of the fetus/neonate.

Anesthetic management of external iliac artery transection in a morbidly obese patient with Klippel-Trenaunay-Weber syndrome: a case report.

BACKGROUND: We report the anesthetic management of an external iliac artery transection in a morbidly obese patient with Klippel-Trenaunay-Weber syndrome (KTWS). CASE PRESENTATION: A 47-year-old man with KTWS was scheduled for a right external iliac artery transection. Preoperative CT showed a right external iliac artery aneurysm, a right superficial femoral artery aneurysm, and developed collateral vessels. General anesthesia was maintained with desflurane, remifentanil, and rocuronium bromide. After the transection of the right external iliac artery, the regional saturation of oxygen (rSO2) value of the right femoral did not decrease. There was no significant hemodynamic change before or after the transection. A non-ultrasound-guided rectus abdominis sheath block was performed due to the many collateral vessels. After extubation, the patient did not complain of postoperative pain. CONCLUSIONS: In the transection of lower-extremity blood arteries under laparotomy in patients with KTWS, rSO2 monitoring, hemodynamic monitoring, and combined regional anesthesia could be useful.

Beyond the abdominal and pelvic cavity: abdominal wall and spinal "Aunt Minnies".

Abdominal wall and spinal soft tissue findings are frequently encountered on CT or MR imaging of the abdomen and pelvis. Many of these entities have specific imaging findings, for which a definitive diagnosis can be made without the need for further work up. These abdominal wall and spinal findings may be diagnostically challenging for sub-specialized abdominal radiologists who are unfamiliar with their appearance and appropriate management. This review article describes and illustrates pathognomonic or characteristic abdominal wall and spinal pathologies, which reside outside the abdominopelvic cavity. The cases selected all have findings that allow a confident diagnosis without further imaging or intervention. The cases presented include myonecrosis, intramuscular abscess, myositis, iliopsoas bursitis, Morel-Lavallée lesion, hydrocele of canal of Nuck, Klippel Trenaunay Weber syndrome, neurofibroma with target sign, perineural cysts, filum terminale lipoma, calvarial bone flap, transverse rectus abdominis muscle (TRAM) flap, liposuction, and hidradenitis suppurativa, among others. Although not all-encompassing, this paper will help abdominal radiologists to accurately diagnose a variety of abdominal and pelvic extra-cavitary soft tissue pathologies by identifying key radiologic findings.

Major Limb Amputation in Parkes-Weber Syndrome With Refractory Ulceration: A Case Report and Literature Review.

Parkes-Weber syndrome (PWS) is a rare congenital vascular syndrome consisting of capillary, venous, lymphatic, and arteriovenous malformation. There are many complications of PWS, such as ulceration, bleeding, infection, and cardiac failure. Among them, skin ulceration is one of the thorniest problems in PWS, requiring multidisciplinary approaches for the management. In this article, we presented the case of an elderly patient with refractory ulceration who received numerous treatments with no effect and finally underwent a major amputation to improve the quality of life. Moreover, we reviewed 23 previously reported cases to improve our understanding of the management for PWS patients with ulceration.

Vesical Haemangioma in Klippel-Trenaunay-Weber Syndrome: A Clinical Case Report.

Klippel-Trenaunay-Weber (KTW) syndrome, a rare vascular disorder, often presents with cutaneous capillary malformations and soft tissue hypertrophy. However, urinary tract involvement in the form of vesical haemangiomas is a seldom-encountered clinical condition. We present a case of a 37-year-old male with KTW syndrome who exhibited recurrent gross haematuria, prompting clinical evaluation. Initial diagnostic assessments revealed erythematous changes in the bladder, consistent with haemangiomas. Despite an initial biopsy and diathermy, the patient's symptoms recurred, leading to a subsequent management strategy involving laser fulguration. This case underscores the significance of recognizing cutaneous haemangiomas as potential indicators of urinary tract involvement in KTW syndrome and highlights the challenges in managing vesical haemangiomas, where a multidisciplinary approach is essential for optimal care.

Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report.

BACKGROUND: Klippel-Trenaunay-Weber syndrome (KTWS) is a very rare syndrome that involves three conditions: Cutaneous hemangiomas, varicosities, and soft-tissue hypertrophy of the affected limb. There are few cases of ischemic infarction with KTWS. Here, we describe a case of KTWS with ischemic stroke. CASE SUMMARY: A 43-year-old man was diagnosed with KTWS with ischemic stroke. His chief complaints were worsening weakness and spasticity in the right leg. These symptoms had been present for 1 year, but the patient did not receive comprehensive rehabilitation until he underwent a 3-week integrated inpatient rehabilitation program at our center. After the program, his muscle strength, walking ability, and exercise endurance improved. Although relatively rare, clinicians should consider the possibility of a thromboembolic event in KTWS patients. Integrated rehabilitation can help such patients to recover function. CONCLUSION: In conclusion, although rare, patients with KTWS may experience central nervous system vascular malformations and accompanying stroke. It is necessary to investigate whether such patients have any neurological or comorbid abnormalities. Even in the subacute or chronic period after neurological insult, integrated rehabilitation programs can lead to structural and functional enhancement.

Anaesthetic management of an abdominal aortic aneurysmorrhaphy in Klippel-Trenaunay-Weber syndrome: a case report.

BACKGROUND: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital malformation. Although there have been few reports on anaesthetic management of patients with KTWS, there is a lack of data on anaesthetic management for abdominal aortic aneurysm (AAA) surgeries in these patients. CASE PRESENTATION: A 74-year-old man (height, 160 cm and body weight, 51.5 kg) with KTWS was scheduled for AAA replacement. Abdominal computed tomography (CT) showed prominent tortuosity below the abdominal aorta with an infrarenal abdominal aortic aneurysm, right common iliac artery aneurysm, and right external iliac artery aneurysm. Moreover, a remarkably noted arteriovenous fistula had developed between the aneurysm and peripheral artery. General anaesthesia was induced. Furthermore, a central venous catheter and an 8.5 French sheath in the left internal jugular vein were inserted. During the operation, bleeding from a collateral vessel in the cross-clamped aorta led the surgeon to decide to perform aneurysmorrhaphy. Intraoperatively, blood loss was 1500 ml, and 20 units of red blood cell concentrate were used. CONCLUSIONS: Regarding AAA procedures in patients with KTWS, aortic cross-clamping may not sufficiently intercept blood flow due to collateral vessels. In these patients, the anaesthesiologist must be prepared to transfuse blood more rapidly and frequently than during normal AAA procedures.

Surgical shunt ligation for a congenital extrahepatic portosystemic shunt with pulmonary hypertension: A case report.

INTRODUCTION AND IMPORTANCE: Congenital extrahepatic portosystemic shunt (CEPS) presents with various symptoms due to abnormal communication between the portal venous system and inferior vena cava. And Klippel-Trenaunay-Weber syndrome is another rare congenital disorder characterized by vascular malformations. CASE PRESENTATION: A 16-year-old male with Klippel-Trenaunay-Weber syndrome was referred to our hospital for surgical treatment of pulmonary hypertension due to CEPS since childhood. Dyspnea had developed about two years before presentation at our hospital and gradually worsened. Right heart catheterization had revealed pulmonary hypertension and a high cardiac output state associated with a portosystemic shunt. Although pulmonary vasodilators improved the dyspnea, pulmonary hypertension remained. The patient was then referred to our hospital for surgical shunt occlusion. The results of the preoperative and intraoperative shunt occlusion tests were within acceptable limits. Therefore, primary shunt ligation was performed. There were no postoperative complications. Continuous intravenous vasodilator was tapered off four months after discharge. No additional or increased doses of medications were required for four years after surgery. CLINICAL DISCUSSION: Surgical shunt ligation for CEPS is effective but can cause acute portal hypertension. Primary shunt ligation could be performed without complications according to the criteria for safe shunt occlusion. CONCLUSION: Surgical portosystemic shunt ligation could be performed safely and ameliorated pulmonary hypertension. Patients with CEPS, especially young patients, should be referred to a tertiary center while asymptomatic, and early therapeutic intervention is necessary.

Femoral Shaft Fracture in Klippel-Trenaunay-Weber Syndrome Patients - What to Do to Reduce Bleeding Risk: A Case Report.

A fracture of the affected extremity in patients with Klippel-Trenaunay-Weber syndrome can be fatal due to massive bleeding and show poor results. A 42-year-old male presented with an old fracture of the right femoral shaft with metal failure. We planned an operation to remove the previously fixed plate and to perform re-fixation using an intra-medullary nail. Preoperative angiography was performed and the arteriovenous malformations were embolized in order to reduce the risk of bleeding. After angiography, the previously fixed plate was removed. After the operation, a second angiography was performed immediately and the venous malformation was embolized. One week after the first operation, a second operation was performed in order to reduce the fracture and to perform re-fixation using an intramedullary nail. The patient is being followed without major complication over a period of seven years after surgery. We recommend careful planning of preoperative and postoperative angiography and embolization in order to reduce the risk of bleeding in patients with Klippel-Trenaunay-Weber syndrome.

Persistent sciatic vein.

BACKGROUND: Venous anomalies of the lower extremity are a challenge when found as rare variations. Physicians should be aware of morphological variations in this region for correct diagnosis and management of diseases such as deep vein thrombosis. MATERIALS AND METHODS: During the routine dissection of the lower extremities of a Caucasian male cadaver, a case of persistent sciatic vein was found. RESULTS: A persistent sciatic vein originating from the saphenopopliteal junction coursed proximally and laterally to enter into the adductor magnus muscle, at the right side. Running through the fibres of the adductor magnus anteriorly, the variant vein drained into the deep femoral vein just medial to the vastus medialis muscle. CONCLUSIONS: As being a rare congenital vascular anomaly, the persistent sciatic vein should be correctly diagnosed and defined during the radiologic assessments, surgical interventions and blockades for better outcomes and lesser complications.

Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma.

We describe a case of prenatal diagnosed Klippel-Trenaunay-Weber syndrome, which mainly manifested as hypertrophy of the left thigh, and was associated with umbilical cord hemangioma and loss of heterozygosity (LOH) for 1q21.2 q44. This case report describes the second reported case associated with umbilical cord hemangioma and the first reported case with LOH for 1q21.2 q44.

Síndrome congénito de Klippel-Trenaunay-Weber: caso clínico / Congenital Klippel-Trenaunay-Weber syndrome: clinical case

RESUMEN: El síndrome de Klippel-Trenaunay-Weber (SKTW) es una enfermedad congénita poco frecuente caracterizada por hipertrofia de un miembro que afecta a los huesos y a las partes blandas, con extensos angiomas planos, várices y otras anomalías vasculares, como fístulas arteriovenosas. Su incidencia es de 1:100.000 personas. El objetivo fue describir un caso raro de SKTW bilateral, confirmado con hallazgos clínicos e imagenológicos en un niño de 9 años de edad, de sexo masculino, con antecedentes de sangrado digestivo bajo, herniorrafía inguinal izquierda y orquidopexia ipsilateral. En ambos miembros inferiores se identificaron lesiones hemangiomatosas e hipertrofia muscular y edema en miembro inferior izquierdo con ausencia de segundo y tercer dedos del pie izquierdo por antecedente quirúrgico de amputación. Adicionalmente, presentaba adenopatías cervicales e inguinales. Dentro de los hallazgos radiográficos importantes, se observó una cortical ósea delgada en el fémur del miembro inferior izquierdo. El SKTW afecta típicamente a los miembros inferiores de forma unilateral; este es un caso infrecuente de afección bilateral (con predominio izquierdo). Algunos pacientes, registran compromiso visceral con hemorragia digestiva baja, además de alteraciones genitourinarias, presentes en el 30% de los casos. La presentación de adenopatías es inusual.

SUMMARY: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disease characterized by limb hypertrophy affecting bones and soft tissues, with extensive flat angiomas, varicose veins, and other vascular abnormalities, such as arteriovenous fistulas. Its incidence is 1: 100,000 people. The aim of this work was to describe a rare case of bilateral KTWS, confirmed with clinical and imaging findings in a 9-year-old male, with a history of lower gastrointestinal bleeding, left inguinal herniorrhaphy and ipsilateral orchidopexy. In both lower limbs, hemangiomatous lesions and muscle hypertrophy were identified, and in the left lower limb edema was identified with absence of the second and third toes due to a surgical history of amputation. Additionally, the patient presented cervical and inguinal lymphadenopathy. Among the important radiographic findings, in the left lower limb femur a thin bony cortex was observed. KTWS typically affects the lower limbs unilaterally; this is an infrequent case of bilateral affection (predominantly left). Some patients have visceral involvement with lower gastrointestinal bleeding, as well as genitourinary alterations, present in 30 % of cases. The presentation of lymphadenopathy is unusual.

Klippel-Trenaunay-Weber Syndrome Associated with Multiple Cerebral Arteriovenous Malformations: Usefulness of Gamma Knife Stereotactic Radiosurgery in This Syndrome.

BACKGROUND: Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by the presence of a combined vascular malformation of capillaries, veins, and lymphatic vessels; congenital venous abnormalities; and limb hypertrophy. Its association with neurovascular abnormalities is infrequent, and the presence of intracranial arteriovenous malformations (AVMs) is extremely rare. CASE DESCRIPTION: We report a case of a 48-year-old male diagnosed with KTWS who spontaneously presented with a cerebral hemorrhage. Computed tomography scan and angio-computed tomography studies revealed bleeding associated with AVM rupture. In the conventional arteriography study, 10 small (<1 cm) AVMs were observed. The patient presented a good clinical recovery. These multiple small lesions were not considered susceptible to surgical or endovascular treatments. Therefore all lesions were treated with Gamma Knife stereotactic radiosurgery since it attains the highest dose drop and minimal irradiation of the healthy parenchyma. One year after the treatment, the lesions have shrunk. CONCLUSIONS: Cerebral AVMs are extremely rare in KTWS cases; however, their presence can have serious consequences if they are treated. We find it advisable to include brain imaging tests, such as nuclear magnetic resonance imaging, to diagnose and monitor KTWS. Furthermore, a Gamma Knife may be useful when multiple AVMs are present.

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

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.

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.

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.

Truncal Varicosities and Bilateral Port-wine Stain with Spinal Deformities Associated with Klippel-Trenaunay-Weber Syndrome.

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder characterized by asymmetric limb hypertrophy, usually of the lower limbs, as well as vascular anomalies and capillary malformations under the skin, termed as port-wine stain. KTWS is prevalent in all parts of the world. It has a high degree of diversity of the associated malformations. In the present case, vascular/lymphatic malformations were evident by the presence of bilateral port-wine stain and lymphangioma. More interestingly, prominent aberrant veins (truncal varicosities) were found in the anterior chest wall, together with the presence of multiple angiolipomatosis. Bone deformities were more than limb hypertrophy and macrodactyly and extended to spinal deformities in the form of scoliotic changes.

Inverse klippel-trenaunay syndrome / Síndrome de klippel-trenaunay inverso

ABSTRACT Objective: To report a rare case of inverse Kipplel-Trenaunay. Case description: A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue. Comments: Inverse Klippel-Trenaunay is a Klippel-Trenaunay syndrome variation in which there are capillary and venous malformations associated to hypotrophy or shortening of the affected limb. Modifications on the limb's length or width result from alterations in bones, muscles, or subcutaneous tissues. It has few described cases. Further clinical and molecular studies must be performed for a proper understanding.

RESUMO Objetivo: Relatar um caso raro de Klippel-Trenaunay inverso. Descrição do caso: Menina de 16 anos com placa deprimida acinzentada na coxa esquerda, evidenciando-se, por meio de angioressonância, uma malformação vascular, acometendo a pele e tecidos subcutâneos. Comentários: Klippel-Trenaunay inverso é uma variante da síndrome de Klippel-Trenaunay em que há malformação capilar e venosa associada à hipotrofia ou encurtamento do membro afetado. Pode envolver acometimento ósseo, muscular ou subcutâneo, modificando o comprimento ou a circunferência do membro. Há poucos casos descritos, e mais estudos clínicos e moleculares precisam ser realizados para seu correto entendimento.