Peoría paradójica en fístulas carótido-cavernosas durales: cuando el cuerpo se enferma más para curarse / Paradoxical worsening in carotid-cavemous ductal fistulas: when the body get more sick in order to cure

Las fístulas carótido-cavernosas son comunicaciones arteriovenosas patológicas entre la arteria carótida interna intravenosa y el seno venoso-cavernoso que la rodea. Un sistema de flujo y presión elevados irrumpe sobre otro de bajo flujo y velocidad. Ello origina los síntomas y signos. La gran mayoría, son resultantes de traumatismos craneales siendo de alto flujo y alta velocidad-fístulas traumáticas o directas; menos comunes son las llamadas fístulas espontáneas o durales localizadas en la duramadre y alimentadas por ramas menígeas provenientes de las arterías carótidas externa, interna o ambas y de las arterias vertebrales. Estas últimas raras veces tienen implicaciones graves para la vida, pero la pérdida visual constituye el mayor riesgo; no obstante, con elevada frecuencia, ocurre la oclusión espontánea, por lo que se impone la observación hasta que la sintomatología justifique el tratamiento. En el curso evolutivo puede ocurrir la trombosis aguda de la fístula y más propiamente de la totalidad de la vena oftálmica superior la que produce un distintivo cuadro de notable agravamiento de los síntomas que en forma contradictoria ocurre antes de la mejoría y reversión de los síntomas, el síndrome de empeoramiento o peoría paradójica. Para ilustrar el síndrome se presentan los casos clínicos de los pacientes

Caroid-cavernous fistulas are pathological arteriovenous communications between the intracavernous internal carotid artery and the cavernous sinus. A system of high flow and pressure bursts over another system of low flow and slow velocity. This causes the symptoms and signs. The vast majority are related with head trauma being high flow and high speed fistulas: traumatic or direct. Less common are the so-called spontaneous or dural fistulas located in the duramater and fed by meningeal branches from the external, internal, or both carotic arteries and the vertebral arteries. These latest rarely have serious implications for life, but visual loss is the greatest risk; however, with high frequency spontaneously occlusion occurs, and then observation imposes until symptoms justified the treatment. During its evolution acute thrombosis of the fistula itself can occur along the entire length of the ophthalmic vein which produces a distinctive and paradoxical worserning and reversal of symptoms, which is called the syndrome of paradoxical worserning. Clinical cases of two patients are presented to illustrate the syndrome

Síndrome de Ehlers-Danlos: presentación de un caso / Ehlers-Danlos syndrome: presentation of a case

En este trabajo se realizó la presentación de un caso afectado con el Síndrome de Ehlers- Danlos, identificado en la consulta de Genética Clínica. Teniendo en cuenta la importancia y severidad de algunas de sus formas, y que el diagnóstico, en ocasiones, de las formas más leves no se realiza, se revisó la bibliográfica actualizada sobre esta patología para la mejor comprensión del caso.

We present a case of a patient affected by the Ehlers-Danlos syndrome, identified at the Genetic Clinic consultation. Taking into account the importance and severity of some of its forms, and that sometimes the mildest forms are not diagnosed, we carried out an up-dated bibliographic review on this pathology for a better comprehension of the case.

Ehlers-Danlos syndrome type IV with gastric adenocarcinoma.

BACKGROUND: Ehlers-Danlos syndrome has many subtypes. The vascular type (type IV) is characterized by thin, translucent skin, easy bruising, characteristic facial appearance, and arterial, intestinal, and/or uterine fragility. OBJECTIVES: To encourage a better understanding of vascular EDS as a basis for early diagnosis, prevention, and management of complications. A first case of EDS type IV with adeno-carcinoma of the stomach in Thailand was reported and literature was reviewed. RESULT: A 62-year-old Thai priest was admitted in Priest Hospital because of progressive muscle weakness of both legs with neurogenic claudication from compression fracture of L1-2. Abdominal aortic aneurysm were detected with upper gastrointestinal hemorrhage, esophagogastroduodenoscopy showed diffuse gastric body swelling and erythema resulting in chronic gastritis. Gastric biopsy was indicative of adenocarcinoma of the stomach and gastrectomy was done. Dermatologists were consulted due to generalized cutaneous pain, easy bruising following venepuncture, and EKG padding. A vascular EDS type IV was diagnosed. CONCLUSION: After gastrectomy, the patient became drowsy and unconscious from profuse recurrent cerebral hemorrhage and expired.

Síndrome de Ehlers-Danlos: relato de 3 casos de uma família através de nova mutaçäo / Ehlers-Danlos syndrome: report of 3 cases in a family through new mutation

Os autores descrevem três casos de síndrome de Ehlers-Danlos (SED) em uma família, considerados pela anamnese e heredograma como oriundos de mutaçao genética em um dos gametas que deram origem ao pai da probanda. Pesquisas laboratoriais revelam coagulograma com discreto aumento no tempo de protrombina em dois casos; teste de fragilidade capilar de Hess positivo nos três casos; biópsia de pele, estudada com a técnica de hematoxilina-eosina e Verhoeff, mostrando acantose irregular e aumento de fibras elásticas na derme. Discutindo as manifestaçoes clínicas, a transmissao hereditária, as complicaçoes e os exames complementares próprios dos 11 tipos descritos da SED, incluem os três novos casos no tipo II. Concluem ser necessário aconselhamento genético nessa doença rara, hereditária e de padrao autossômico dominante, e que nao há tratamento específico para a SED, mas é possível a expectativa de uma vida melhor, se nao houver outras patologias associadas a ela.