Periodontal Manifestations and Ambulatorial Management in a Patient With Sturge Weber Syndrome

Sturge-Weber syndrome is a nonhereditary congenital condition characterized by leptomeningeal and facial skin angiomatous malformation following the trigeminal nerve path. The intraoral angiomatosis are presented in 40% of cases and results in an important periodontal alteration, increasing the risk of bleeding during dental procedures. A 43-year-old male patient presented with port wine stain on the right side of the face, the entire hard and soft palates, the alveolar ridge, and buccal mucosa, and had an excessive accumulation of calcified masses in both supragingival and subgingival sites, with swelling and generalized inflammation throughout the gingiva and alveolar mucosa. He reported not having sanitized the area for years for fear of bleeding. Periodontal management, to remove calculus and to control gingivitis initiated in the supragingival region and gradually reaching the subgingival region to control oral microbiota, was performed with mild bleeding. The redness of the staining greatly diminished with time and the extreme halitosis of the patient also improved sharply leading to a dramatic improvement in quality of life. Ambulatory care is a feasible alternative for periodontal management that within safety limits for bleeding risks reduces the operational cost.

Avaliação psico-educacional de uma adolescente portadora da síndrome de Sturge-Weber

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report

We describe the orthodontic treatment of a patient with Klippel-Trenaunay-Weber syndrome (KTWS) who received orthodontic treatment that included rapid palatal expansion and orthognathic surgery. There is no report in the literature with this orthodontic treatment protocol, that was considered successful. The pros and cons of this approach as well as the risks involved are discussed. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010; 109: e17-e25)

Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report

Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review.

Síndrome de Sturge-Weber: relato de caso

Contexto: É descrita uma síndrome congênita rara e suas manifestações típicas visando seu diagnóstico precoce. Descrição do caso: Pacientedo sexo feminino, com 15 anos de idade, com glaucoma congênito em acompanhamento pelo Serviço de Oftalmologia da UniversidadeEstadual Paulista (Unesp) foi encaminhada ao Serviço de Dermatologia com um ano de idade devido a manchas eritêmato-violáceasextensas distribuídas nos dois terços superiores da hemiface esquerda e em outras localidades do corpo desde o nascimento. A mãerelatava convulsões desde um ano e atraso do desenvolvimento neuropsicomotor. Nos antecedentes familiares, negava casos semelhantes.O diagnóstico da Síndrome de Sturge-Weber foi estabelecido pelo quadro clínico característico e pelos exames complementares quedemonstraram, no sistema nervoso central, atrofia e calcificação corticais, além de alterações oftalmológicas como glaucoma e buftalmo.Discussão: A síndrome de Sturge-Weber ocorre em 1 a cada 20.000 a 50.000 nascidos vivos e é caracterizada por malformações vascularesmanifestadas por manchas eritêmato-violáceas, mais conhecidas como manchas vinho do Porto , localizadas no território do ramooftálmico do nervo trigêmeo, com acometimento neurológico e possível acometimento ocular. O prognóstico depende das complicaçõesneurológicas, as quais não guardam relação com a extensão das lesões cutâneas. Conclusões: Relata-se afecção rara, cujo diagnósticoprecoce direciona o acompanhamento multidisciplinar.

Sciatic nerve enlargement in the Klippel-Trenaunay-Weber syndrome

The case of a 35-year-old woman with Klippel-Trenaunay-Weber syndrome (KTWS) showing clinical symptoms of a peroneal nerve lesion is presented. An immense nerve enlargement along most of the sciatic, peroneal and tibial nerve was found to be due to a lipoma arising from the epi- and perineurium. Treatment consisted of extensive microsurgical neurolysis and excision of the tumor resulting in decompression of the affected nerves. Although rare, a perineural lipoma should be kept in mind in patients with KTWS showing neurological abnormalities.

Tailored resections for intractable rolandic cortex epilepsy in children: a single-center experience with 48 consecutive cases

A single-center experience with pediatric patients who underwent surgery for intractable rolandic epilepsy was reviewed with the aim of identifying putative factors that could influence postoperative seizure outcome in this population. Clinical data of 48 patients under 18 years of age with diagnosis of intractable rolandic epilepsy who underwent surgery from January 1996 to September 2009 were reviewed. Patients` mean age at surgery was 9.9 +/- 5.3 years; mean age at epilepsy onset was 3.9 years; mean seizure duration prior to surgery was 6 years; and mean follow-up was 5.1 years. The most frequent etiologies were cortical dysplasia, astrogliosis, tumors, tuberous sclerosis complex, and Sturge-Weber syndrome, which were observed in 20/48 (41.6%), 10/48 (20.8%), 10/48 (20.8%), 5/48 (10.4%), and 3/48 (6.2%) of the patients, respectively. After surgery, 20 patients (41.6%) showed neurological deficits, which in turn recovered within no longer than 6 months after surgery. Seizure outcome was classified as Engel class I in 29 (60.4%), Engel class II in 10 (20.8%), and Engel class III in 9 (18.8%) of the patients. The factors significantly related with seizure outcome were histological features (tumor versus non-tumor cases, p = 0.04) and lesion site (focal lesions versus non-focal lesions, p = 0.04). Tailored resection of rolandic cortex for intractable epilepsy can be safely performed in children. Accurate mapping of both functional cortex and epileptogenic areas may lead to improved seizure outcome. Tumor as well as focal lesions in hand and face motor areas are associated with good seizure outcome.

Outcomes of disconnective surgery in intractable pediatric hemispheric and subhemispheric epilepsy.

Objectives: To study the outcome of disconnective epilepsy surgery for intractable hemispheric and sub-hemispheric pediatric epilepsy. Methods: A retrospective analysis of the epilepsy surgery database was done in all children (age <18 years) who underwent a peri-insular hemispherotomy (PIH) or a peri-insular posterior quadrantectomy (PIPQ) from April 2000 to March 2011. All patients underwent a detailed pre surgical evaluation. Seizure outcome was assessed by the Engel's classification and cognitive skills by appropriate measures of intelligence that were repeated annually. Results: There were 34 patients in all. Epilepsy was due to Rasmussen's encephalitis (RE), Infantile hemiplegia seizure syndrome (IHSS), Hemimegalencephaly (HM), Sturge Weber syndrome (SWS) and due to post encephalitic sequelae (PES). Twenty seven (79.4%) patients underwent PIH and seven (20.6%) underwent PIPQ. The mean follow up was 30.5 months. At the last follow up, 31 (91.1%) were seizure free. The age of seizure onset and etiology of the disease causing epilepsy were predictors of a Class I seizure outcome. Conclusions: There is an excellent seizure outcome following disconnective epilepsy surgery for intractable hemispheric and subhemispheric pediatric epilepsy. An older age of seizure onset, RE, SWS and PES were good predictors of a Class I seizure outcome.

Phacomatoses et tumeurs génétiquement déterminées: la transition enfant-adulte [Phacomatosis and genetically determined tumors: the transition from childhood to adulthood]

Les phacomatoses regroupent des maladies du développement du neurectoderme, engendrant des manifestations cutanées ou du système nerveux central. Les symptômes de ces maladies peuvent affecter les individus atteints à différents moments de leur vie. Il s'agit de maladies, héréditaires ou congénitales, qui sont transmises de façon variable. Effectivement, certaines, telles que la neurofibromatose, la sclérose tubéreuse ou la maladie de von Hippel-Lindau sont autosomiques dominantes, alors que d'autres, telles que la maladie de Sturge-Weber sont sporadiques. Des transmissions autosomiques récessives liées à X ou des formes mosaïques existent également. Une revue de la littérature, comprenant les cinq phacomatoses les plus fréquemment vues par un neurochirurgien (neurofibromatose de type I et II, sclérose tubéreuse de Bourneville, maladie de Sturge-Weber-Krabbe, maladie de von Hippel-Lindau) a été effectuée en se centrant sur le diagnostic, la variabilité de la symptomatologie selon l'âge du patient et son traitement. Les cas de patients adultes et pédiatriques vus aux consultations de neurologie et neurochirurgie de l'hôpital de Lille (France) et Lausanne (Suisse), de 1961 à nos jours, ont été revus pour illustrer les différentes pathologies rencontrées, selon l'âge des patients atteints. Le phénotype de ces maladies se modifie avec l'âge, car les gènes incriminés sont des gènes impliqués dans la différentiation tissulaire et sont activés à des âges différents suivant les tissus. Le rôle du neurochirurgien sera variable selon l'âge et le syndrome du patient. Il importe de connaître les variations du phénotype de ces maladies avec l'âge ainsi que les conséquences à long terme des traitements pour proposer au patient un suivi neurochirurgical personnalisé. Phacomatoses, or neurocutaneous disorders, are a group of congenital and hereditary diseases characterized by developmental lesions of the neuroectoderm, leading to pathologies affecting the skin and the central nervous system. There is a wide range of pathologies affecting individuals at different moments of life. The genetics is variable: while neurofibromatosis 1 and 2, tuberous sclerosis and von Hippel-Lindau disease are all inherited as autosomal dominant traits, Sturge-Weber syndrome is sporadic. Other neurocutaneous disorders can be inherited as autosomal recessive traits (i.e., ataxia-telangiectasia), X-linked (i.e., incontinentia pigmenti) or explained by mosaicism (i.e., hypomelanosis of Ito, McCune-Albright syndrome). In this review, we discuss the major types of neurocutaneous disorders most frequently encountered by the neurosurgeon and followed beyond childhood. They include neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. In each case, a review of the literature, including diagnosis, genetics and treatment will be presented. The lifespan of the disease with the implications for neurosurgeons will be emphasized. A review of cases, including both pediatric and adult patients, seen in neurosurgical practices in the Lille, France and Lausanne, Switzerland hospitals between 1961 and 2007 is presented to illustrate the pathologies seen in different age-groups. Because the genes mutated in most phacomatoses are involved in development and are activated following a timed schedule, the phenotype of these diseases evolves with age. The implication of the neurosurgeon varies depending on the patient's age and pathology. While neurosurgeons tend to see pediatric patients affected with neurofibromatosis type 1, tuberous sclerosis and Sturge-Weber syndrome, there will be a majority of adult patients with von Hippel-Lindau disease or neurofibromatosis type 2

Therapy of acute massive pulmonary embolism associated with Klippel-Trenaunay syndrome.

Acute massive pulmonary embolism (PE) is a life-threatening event. Before the era of cardiopulmonary bypass, acute pulmonary embolectomy had been historically attempted in patients with severe hemodynamic compromise. The Klippel-Trenaunay syndrome (KTS) represents a significant life-long risk for major thromboembolic events. We present two young patients with Klippel-Trenaunay syndrome who survived surgical embolectomy after massive PE and cardiopulmonary resuscitation, with good postoperative recovery. Even though the role of surgical embolectomy in massive PE is not clearly defined, with current technology it can be life saving and can lead to a complete recovery, especially in young patients as described in this study.

Osler-Weber-Rendu Syndrome - Dental Implications

Osler-Weber-Rendu syndrome (OWRS) is a rare hereditary, autosomal dominant disease characterized by a local angiodysplasia. Its clinical characteristics are vascular hamartomas of the skin and oral mucosa, arteriovenous malformations in the lungs, liver, kidney and brain, and episodes of epistaxis. The oral lesions, which become apparent through hemorrhagic telangiectasia, may be the first sign of the disease. This is a case report of a 74-year-old woman whose diagnosis of OWRS was established by her dentist based on the presence of telangiectasia in the skin and oral mucosa, reports of frequent nosebleeds of unknown etiology and a family history of telangiectasia. Amputation of a lower limb and comorbidities, such as cardiopathy, nephropathy and rheumatic disorders, completed the profile. OWRS causes major vascular changes that can be diagnosed initially by a dentist. In this article, we describe the skills and knowledge that dentists need to monitor patients with OWRS properly.