1/72. 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.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/72. 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.- - - - - - - - - - ranking = 0.6keywords = malformation (Clic here for more details about this article) |
3/72. 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.- - - - - - - - - - ranking = 0.2keywords = malformation (Clic here for more details about this article) |
4/72. 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.- - - - - - - - - - ranking = 0.4keywords = malformation (Clic here for more details about this article) |
5/72. 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.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
6/72. Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI.We examined 11 patients, clinically and radiographically diagnosed as having the Klippel-Trenaunay syndrome (KTS) by MRI. There were four females and seven males, aged 3-51 years (mean 21 years). Two had clear asymmetry of the cerebral and cerebellar hemispheres. The thickness of the grey matter was normal, without sulcation abnormalities, but the thickness of the white matter was increased; the size of the ipsilateral ventricle was normal. These patients had hypertrophy of the leg and a cutaneous haemangioma on the same side as the brain abnormality. No patient had an intracranial vascular malformation, unilateral megalencephaly, cerebral atrophy or hydrocephalus. The prevalence of cerebral hemihypertrophy in our series of patients with KTS was thus 18%.- - - - - - - - - - ranking = 0.2keywords = malformation (Clic here for more details about this article) |
7/72. Orofacial findings in the Klippel-Trenaunay syndrome.The Klippel-Trenaunay syndrome is a triad of congenital anomalies characterised by haemangiomas, varicosities, and unilateral bony and soft tissue hypertrophy. hypertrophy usually affects one distal limb, but trunk or face may be affected. Cutaneous haemangiomas (nevus flammeus) of varying extent and irregular contour are often present in the hypertrophic regions. Varicosities may also be part of the vascular lesions of the syndrome. Orofacial manifestations include facial asymmetry, jaw enlargement, and malocclusions as well as premature tooth eruption. Two cases of the Klippel-Trenaunay syndrome are presented here. Both of these show the typical hemifacial hypertrophy and premature eruption of teeth on the affected side. In the first case only the left mandibular region was affected. In contrast, in the second there was hypertrophy of the whole left side of the body including upper and lower jaws. This boy also suffers from congenital ideokinetic retardation, while the first was otherwise normal. Both cases differ from previously reported cases of the Klippel-Trenaunay syndrome in lacking any prominent facial nevus flammeus. In the first case there was also malformation of the crown of the first permanent molar on the affected side that has not been described previously.- - - - - - - - - - ranking = 0.2keywords = malformation (Clic here for more details about this article) |
8/72. Co-occurrence and contribution of fabry disease and klippel-trenaunay-weber syndrome to a patient with atypical skin lesions.fabry disease (FD) is an X-linked recessive inborn error of glycosphingolipid metabolism. Among clinical symptoms, maculopapular skin lesions, known as angiokeratoma, most often appear on the lower abdomen, scrotum, and thighs, with a tendency toward bilateral symmetry. A 30-year-old male patient was referred to us for evaluation of a complex vascular and cutaneous malformation. skin examination showed numerous angiokeratoma, which had developed only on the right part of the body, with a sharp delineation in the midline of the trunk. The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA). This mutation was also demonstrated in dna extracted from fibroblast cultures established from both affected and unaffected skin areas, thus excluding the hypothesis of somatic mosaicism or revertant mosaicism. Interestingly, the diagnosis of klippel-trenaunay-weber syndrome (KTWS) was also made, through clinical and radiological investigations. This is the first report on the association between FD and KTWS. karyotype analysis was normal. It is likely that the mixed vascular malformations of KTWS affecting capillary and venous systems have contributed to the unusual angiokeratoma distribution pattern observed in the patient.- - - - - - - - - - ranking = 0.4keywords = malformation (Clic here for more details about this article) |
9/72. Klippel-Trenaunay syndrome: 2 case reports and a review of genitourinary manifestations.PURPOSE: We summarize the literature and present our experience with genitourinary manifestations of the Klippel-Trenaunay syndrome, which can lead to challenging management problems. MATERIALS AND methods: We report on 2 patients with genitourinary manifestations of the Klippel-Trenaunay syndrome and performed a medline review of the literature using the key words "Klippel-Trenaunay," "vascular malformation" and "genitourinary." RESULTS: Genitourinary manifestations were cited in 18 articles, including 1,174 cases of the Klippel-Trenaunay syndrome, detailing the presentation and management of bladder, external genitalia and retroperitoneal involvement in the Klippel-Trenaunay syndrome. The overall genitourinary symptoms in patients with the Klippel-Trenaunay syndrome seem to occur in the more severe cases and usually involve cutaneous vascular malformations of the trunk, pelvis and genitalia. CONCLUSIONS: Intra-abdominal and intrapelvic extension of the vascular malformations of the Klippel-Trenaunay syndrome frequently occurs concurrently with the lower abdominal, pelvic cutaneous involvement of the external genitalia, as in our 2 cases and in our review of the literature. These data provide a better understanding of the spectrum of genitourinary manifestations in the Klippel-Trenaunay syndrome and provide insight for the clinician to formulate individual therapies for these patients.- - - - - - - - - - ranking = 0.6keywords = malformation (Clic here for more details about this article) |
10/72. Potential complications of intralesional laser photocoagulation for extensive vascular malformations.Vascular anomalies remain a challenge for both patients and plastic surgeons. Recently, promising results have been reported using intralesional photocoagulation (ILP) to treat extensive vascular lesions. At the authors' center, they have treated more than 300 patients with vascular anomalies in different parts of the body between 1996 and 1999. They describe their operative techniques of ILP. Laser pulses of a 1,064-nm wavelength from the Nd:YAG laser were delivered to the target tissues with a 600-microm optical fiber. They report 2 patients who developed complications after a single session of ILP therapy for their extensive vascular malformations. The first patient had Klippel-Trenaunay syndrome (capillary-lymphaticovenous malformations) with widespread involvement of her buttocks and left lower limb. She had severe leukocytosis, thrombocytosis, and hyperkalemia that resolved with intravenous hydration, antibiotics, and sodium bicarbonate. In their second patient, the entire left upper limb was affected. Her total red cell count diminished by a quarter and her hemoglobin concentration dropped by more than 3 g%. This was corrected gradually with supplemental oral hematinics. Although these complications resolved uneventfully in their patients, they hope that their possible development will caution anyone who may wish to attempt this new method of therapy.- - - - - - - - - - ranking = 1.2keywords = malformation (Clic here for more details about this article) |
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