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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Klippel-Trenaunay syndrome is a triad of congenital anomalies characterized by a vascular nevus, varicose veins and bony and soft-tissue hypertrophy. Although the syndrome is uncommon, initially the condition appears as a skin blemish or varicose veins. To avoid errors in management, it is important to recognize the syndrome. In this paper the authors outline the presentation, investigation and management of Klippel-Trenaunay syndrome and describe four cases of their own. One form of Klippel-Trenaunay syndrome, in which all the anomalies of the triad are important, in which direct signs of a large arteriovenous shunt are present and for which the surgical approach is difficult, is Parkes-Weber syndrome. Lack of reports in the world literature on long-term follow-up leaves many unanswered questions regarding prognosis and management.
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PMID:Klippel-Trenaunay syndrome: a review. 631 89

Vascular malformations and neoplasms are very common skin disorders, found in up to 5% of newborns. However, a clear distinction has to be made between proliferating vascular lesions and permanent malformations. An exact classification is also extremely useful, since many new specific diagnostic and therapeutic measures have been developed in recent years. True proliferating tumors are, for example, childhood hemangiomas, glomus tumors, granuloma pyogenicum, tufted angiomas, senile angiomas, and malignant vascular lesions. Vascular malformations can affect capillaries, veins or arteries, as well as lymphatic vessels. Arteriovenous shunts and combined malformations may also exist (Hamburg classification). Nevi flammei, nevi anaemici, hematolymphangiomas, angiokeratotic nevi, circumscribed venous-arterious malformations, and the blue-rubber-blebnevus-syndrome may either be infiltrating or circumscribed and are characterised by a persistence of the primitive vessel network. In contrast, other malformations involve various vascular trunks, showing vessel dilation or obstruction, often combined with changes in bone or soft tissue. Significant large vessel malformations are the Bockenheimer syndrome, the Klippel-Trenaunay syndrome and the Parkes-Weber syndrome. Combinations involving both large trunks and extravascular space such as the Klippel-Trenaunay syndrome also occur.
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PMID:[Classification of vascular abnormalities and neoplasms]. 941 Aug 45

The authors give an account of their experience with the treatment of secondary glaucoma in children with Sturge-Weber's syndrome, followed up on a long-term basis (mean follow up period 6 years). Sixteen eyes of 13 children, mean age 10.5 years during the last check-up were treated: four eyes by medicamentous treatment, 12 eyes were operated. A total of 27 operations were performed: 13x cyclocryocoagulation, 11x trabeculectomy and including peroperative administration of 5-fluorouracil in 3 cases, 2x trabeculotomy and 1x laser trabeculoplasty. The criterium of therapeutic success is an intraocular pressure < or = 21 torr and a concomitant drop of the tension by at least 30% and absence of progression on the papilla or perimeter. In the whole group glaucoma is compensated in 11 eyes (68.8%). The most frequent complication was choroid ablation after filtration surgery (6x). It developed practically only in older children. In two patients bilateral glaucoma was observed despite unilateral naevus flammeus. Therefore it is necessary to check always both eyes.
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PMID:[Personal experience in treatment of glaucoma in children with the Sturge-Weber syndrome]. 962 44

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.
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PMID:Endoscopic neodymium:yttrium aluminium garnet (Nd:YAG) laser irradiation of a bladder hemangioma associated with Klippel-Weber syndrome. 1081 Sep 71

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heterotopia, schizencephaly, holoprosencephaly, hemimegalencephaly, and phakomatoses like tuberous sclerosis, Sturge Weber syndrome and linear cutaneous nevus syndrome. Seizure semiology varied in all categories. Microcephaly, developmental delay and tone abnormalities were common clinical findings. 60.5 percent cases presented in infancy. The characteristic EEG features provided a clue to the diagnosis of anomalies like lissencephaly, agenesis of corpus callosum and alobar holoprosencephaly.
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PMID:Spectrum of congenital CNS malformations in pediatric epilepsy. 1534 72

Sturge - Weber syndrome (SWS) is a rare disorder that occur with a frequency of approximately 1 per 50,0001. It isa neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. The hallmark is intracranial vascular angioma, most often involving the occipital and posterior parietal lobes, but it can also affect the other cortical regions. An ipsilateral facial cutaneous vascular malformation (port wine nevus)usually affects the upper face. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis,mental retardation and delayed developmental milestones. This article reports a case of 8 years old boy who presented with weakness of right half of body since birth, mental retardation and delayed developmental milestones. Clinical examination revealed deep purple nevus on left lower face, and less power of left upper & lower limbs.X-ray skull showed calcification. C.T. Scan of brain revealed curvilinear calcification with focal atrophy.
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PMID:Sturge - Weber syndrome. 1638 55

Sturge-Weber Syndrome (SWS) occurs sporadically with a frequency of approximately 1 in 50,000. SWS is a mesodermal phakomatosis. Klippel-Trenaunay Weber syndrome (KTWS) is another very rare phakomatosis. Overlap between SWS & KTWS is very rarely encountered. We report a 19 months old boy with features of both SWS and KTWS. The reported case had seizures, port wine haemangioma of the right side of the body, glaucoma of both eyes, subcortical calcification which were consistent with the Sturge Weber Syndrome; on the other hand he had also hypertrophy of the right side of the including the face and limbs, angiomatous skin naevus, varicosities consistent with the KTWS.
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PMID:Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome. 1828 39

Sturge Weber syndrome is characterized by unilateral facial nevus with a tram track appearance on CT scan. However different variants have been described. We report one such variant in a 14 months old child with bilateral facial nevus and bilateral curvilinear calcification. There was also global development delay and early onset of seizures reflecting the severe bilateral cortical changes.
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PMID:Sturge-Weber syndrome with bilateral facial nevus and early cerebral calcification. 2240 57

The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.
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PMID:Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. 2502 75

The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome.
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PMID:Genetic basis for vascular anomalies. 2760 21


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