| klippel-trenaunay-weber syndrome (KTWS) is a rare, congenital disorder characterized by the triad of varicose veins, cutaneous hemangiomas, and hypertrophy of soft tissue and bone. We present the case of a woman with KTWS, cor pulmonale, and death due to recurrent pulmonary embolism (PE). The risk of deep venous thrombosis and PE in patients with KTWS is evaluated, and treatment recommendations are made with emphasis on the role of early, aggressive management in the subset of patients with KTWS known to have thromboembolic disease. ( info) |
2/211. Epidural analgesia in an obstetric patient with Klippel-Trenaunay syndrome. We describe the use of epidural analgesia for vaginal delivery of a parturient with Klippel-Trenaunay syndrome in whom the use of repeated magnetic resonance imaging during her obstetric care allowed us to see deep haemangiomata. This also allowed the safe sitting of an epidural catheter at L1-2 to provide analgesia for labour and delivery. Klippel-Trenaunay syndrome and the anaesthetic implications of the congenital vascular abnormalities and potential coagulopathy are discussed. ( info) |
| A case of prenatal Klippel Trenaunay-Weber syndrome is presented, with a description of the sonographically observed disease progression in utero. The appearance of a complex thoracic multicystic mass in association with progressive unilateral lower limb enlargement was strongly suspicious of this disorder. Colour-flow Doppler studies of the cutaneous haemangiomata in utero were not of diagnostic assistance in this case. The prenatal detection of the large cutaneous haemangiomata was of critical importance in minimizing delivery trauma for the mother and fetus. ( info) |
4/211. Right iliac vein agenesis, varicosities, and widespread hemangiomas: report of a rare case. We present a probable variant of the Klippel-Trenaunay syndrome with the clinical features of capillary hemangiomas, varicosities, and agenesis of the right iliac venous system, but without limb hypertrophy. To our knowledge, this is the 1st such case reported in the medical literature. ( info) |
5/211. Endovascular treatment of a cervical paraspinal arteriovenous malformation via arterial and venous approaches. We describe a cervical congenital paraspinal arteriovenous malformation (AVM) drained by paraspinal and epidural ectatic veins, which caused massive erosion of the C6 and C7 vertebral bodies, threatening the cervical stability and necessitating treatment. During the first session, six arterial embolizations were performed to reduce the size and the flow of the AVM. Two months later, a venous approach was used to occlude the remnant venous exit of the AVM and achieve a complete cure. All embolizations were performed using N-butylcyanoacrylate. ( info) |
6/211. Naevus varicosus osteohypertrophicus. An early diagnostic approach. Naevus varicosus osteohypertrophicus (synonym Klippel-Trenaunay Syndrome KTS) is relatively rare circumscribed, usually quadrant-related gigantism with vascular hyperplasia or malformations based on the embryonic development. The authors observed an 18- and a 30-year-old female with a triad of symptoms: cutaneous nevus flammeus, varicose and dilated veins, and bony and soft tissue hypertrophy of the low limb. The second patient also had two venous ulcers as a dominant clinical feature--a rare manifestation of Klippel-Trenaunay syndrome. A diagnosis of Klippel-Trenaunay syndrome was made by clinical observations, laboratory findings, dermoscan, radiological examination of the bones of the limb, Doppler ultrasonography, photopletismography and venoscan. A bone isotope scan was also done to the first patient. Making an early diagnosis of this sporadic congenital disease with unknown aetiology is important in order to be able to provide early prophylactic and therapeutic measures. Klippel and Trenaunay in 1900 were the first to describe a patient with the simultaneous appearance of osteohypertrophy, hemangiomas and varicose veins involving one extremity [1]. In 1907 Parkes and Weber reported a similar syndrome--they described a patient who had dilated and pulsatile arteries in the affected region including the presence of arterio-venous communications. In 1918 they used the compromise term "haemangiectatic hypertrophy" to embrace all conditions which were associated with congenital vascular malformations including A-V anastomoses associated with bone and soft tissue hypertrophy. Most authors are agreed that Klippel-Trenaunay syndrome and the syndrome of multiple congenital arterio-venous fistulae are two separate features of the Parkes Weber hypertrophy. KTS is manifesting with a triad of symptoms: cutaneous vascular nevus (more frequently nevus flammeus type), superficial venous varicosities and hypertrophy of the affected limb. Usually one quadrant of the body is involved: quite often a leg, an arm, lateral side of the trunk, very rarely the face. More than one quadrant and bilateral involvement are rarely affected. Naevus flammeus appeared at birth. It is extremely variable both in extent and in color--the latter ranging from pale pink to deep purple. Veinous varicosities appear in childhood and adolescence. They are painful and may be complicated by superficial or deep venous thrombosis and rarely, ulceration. hypertrophy of the affected extremities is due to bone and soft tissue hypertrophy. KTS can be associated with other developmental anomalies such as: polydactyly, syndactyly, oligodactyly [2] macrocephaly, blue nevus, epidermal naevus, venous malformations. ( info) |
7/211. Successful pulmonary thromboendarterectomy in a patient with Klippel-Trenaunay syndrome. Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by a triad of cutaneous vascular nevi, soft tissue or bony hypertrophy, and varicose veins or venous malformations involving one or more extremities. An incidence of venous thromboembolism of up to 22% has been reported in this disorder. Also reported is the development of chronic thromboembolic pulmonary hypertension (CTEPH) and subsequent death from right ventricular failure. We report the first patient with KTS to undergo a successful pulmonary thromboendarterectomy for CTEPH. ( info) |
8/211. Endoscopic neodymium:yttrium aluminium garnet (Nd:YAG) laser irradiation of a bladder hemangioma associated with Klippel-Weber syndrome. A case of endoscopic neodymium:yttrium aluminium garnet (Nd:YAG) laser coagulation of a bladder hemangioma associated with Klippel-Weber syndrome is presented. The patient presented with extensive nevus and swelling of the left lower limb since birth. She was diagnosed with Klippel-Weber syndrome by angiography at the age of 1 year. Gross hematuria had been observed since she was 1 year old and, in addition, endoscopic examination revealed diffuse bladder hemangiomas. At 8 years of age, gross hematuria became worse and gait disturbance also appeared. She was referred to the Department of urology at Tohoku University School of medicine for endoscopic treatment in June 1998. Under general anesthesia, the bladder was inflated with CO2 gas and the hemangiomas were coagulated by Nd:YAG laser photonic irradiation endoscopically. Gross hematuria was markedly improved immediately following this treatment. Klippel-Weber syndrome is a rather uncommon disease which shows various types of vascular anomaly and hypertrophy of the lower extremities. Three to 6% of the patients have associated bladder hemangiomas. Although Nd:YAG laser irradiation provides results superior to alternative therapy and is the preferred treatment for most patients with bladder hemangioma, in this case, hemangiomas are multiple and present the possibility of re-bleeding, therefore long-term and close follow up is important. ( info) |
9/211. TMJ morphology and function in a patient with Klippel-Trenaunay syndrome. Case report. Klippel-Trenaunay syndrome is a rare congenital mesodermal disturbance of uncertain etiology in variable expression. The classic manifestation is the triad of congenital mesodermal abnormalities. Clinically a diversity of phenotypes with subjacent malformations may be encountered. The deviations of the mesioblastic germ layer affecting angioblastic, lymphoblastic and osteoblastic structures, may give rise to malformations either alone or in an unlimited diversity of associations. While this syndrome may be diagnosed by chance in the course of ultrasonic scanning during pregnancy, it is normally diagnosed during infancy or early childhood. Evaluation and carefully coordinated medical treatment are important in minimizing morbidity and relieving multiple complaints. The aim of our investigation was to evaluate and correlate the clinical, functional, radiographic and MRI findings in a patient suffering from this syndrome. We present a 13-year-old male patient suffering from extreme facial asymmetry in association with hypertrophy of the complete right side of the body. In spite of pronounced functional and morphologic asymmetry, no signs of degenerative joint disease were identified by radiography or MRI. Since temporomandibular joint dysfunction and facial asymmetry can result in irreversible degenerative joint disease, close follow-up monitoring is indispensable if joint damage is to be prevented. ( info) |
10/211. Massive hematuria in adults with Klippel-Trenaunay syndrome associated with vascular malformation of the bladder. Although hematuria has been reported in children with Klippel-Trenaunay syndrome, it is a rare presentation in the adult population. Two cases of massive hematuria in adults with Klippel-Trenaunay syndrome are reported here. A unique feature was venous malformations of the bladder which were responsible for massive recurrent bleeding in 1 patient. The clinical presentation and management are discussed. Conservative endoscopic and arteriographic control seems to be appropriate as initial management in these patients. ( info) |