Insulinoma: reporte de un caso con resección quirúrgica exitosa

El insulinoma es un tumor endocrino del páncreas, el cual produce hiperinsulinismo y provoca disminución severa de la glucemia, con síntomas crónicos como desvanecimiento. Es más frecuente en varones y puede presentarse a cualquier edad, ya sea como neoplasias solitarias o múltiples, estas últimas conocidas por formar parte del grupo de neoplasias endocrinas múltiples tipo 1 (MEN 1). Los insulinomas son de rara presentación y requieren tratamiento quirúrgico resectivo; la resolución de los síntomas es el marcador de curación. En la presente publicación, se describe un caso de insulinoma en una mujer de 51 años, de presentación típica desde el punto de vista clínico, con síntomas y signos de hiperinsulinismo. Los exámenes de laboratorio indican un aumento de la secreción de insulina, mientras que las imágenes por resonancia magnética muestran características del insulinoma, donde se puede apreciar la tumoración pancreática. Este caso se trató mediante resección quirúrgica por medio de laparotomía exploratoria, utilizando la técnica de enucleación del tumor pancreático, la cual se describe al detalle en la publicación; no se presentaron complicaciones intraoperatorias ni posoperatorias, es decir, desde el punto de vista curativo, el resultado fue exitoso. Esta es la técnica quirúrgica que se emplea en el Hospital Nacional Arzobispo Loayza en Lima, Perú, ante casos como el descrito. Este tipo de neoplasia es muy poco común, por lo que se le debe considerar de alta sospecha y, en este caso, las imágenes fueron fundamentales para optar por la resección quirúrgica. En el hospital Arzobispo Loayza se han tratado otros casos de insulinoma mediante cirugía; asimismo, se ha presentado, al menos, un caso de nesidioblastosis, en donde no se pudo administrar un tratamiento adecuado al paciente.

Insulinoma is a pancreatic neuroendocrine tumor that produces hyperinsulinism and causes a severe lowering of blood glucose levels with chronic symptoms such as fainting. It is more common in males and can occur at any age, either as solitary or multiple neoplasms, the latter known to be part of the multiple endocrine neoplasia, type 1 (MEN 1) group. Insulinomas are rare and require resective surgery, with symptoms resolution being the marker of recovery. This article describes a case of insulinoma in a 51-year-old woman with a clinically typical presentation and signs and symptoms of hyperinsulinism. Laboratory tests revealed increased insulin secretion, while magnetic resonance imaging showed features of insulinoma, where the pancreatic tumor could be seen. This case was treated by surgical resection of the pancreatic tumor during an exploratory laparotomy, using the enucleation technique, which is described in detail herein. There were no intraoperative or postoperative complications, i.e., the result was successful in terms of health recovery. This surgical technique is used at Hospital Nacional Arzobispo Loayza in Lima, Peru, when facing cases such as the one described. This type of neoplasm is very uncommon, so it should be considered highly suspicious and, in this case, the images were essential for choosing the surgical resection. Other cases of insulinoma have been treated surgically at the Hospital; moreover at least one case of nesidioblastosis could not receive an adequate treatment.

Síndrome alterno mesencefálico: síndrome de Weber en dos pacientes varones VIH positivos con toxoplasmosis cerebral

En este reporte se describen dos casos de pacientes varones con VIH diagnosticados por serología, que no estaban recibiendo tratamiento. Ambos pacientes desarrollaron el síndrome alterno mesencefálico y la lesión estructural, causada por la infección del sistema nervioso central por toxoplasmosis cerebral, confirmada mediante una resonancia magnética cerebral. Esta condición se constató por serología en líquido cefalorraquídeo. El síndrome de Weber es un tipo de síndrome alterno mesencefálico poco frecuente y existe poca información de su clínica y evolución. Fue descrito por sir Herman David Weber en 1863, y se caracteriza por la lesión ipsilateral del fascículo del III par craneal, con presencia de hemiparesia contralateral debida a la lesión de la vía corticoespinal y corticobulbar del pedúnculo cerebral. Las causas que lo originan incluyen tanto procesos isquémicos o hemorrágicos, que lesionan el fascículo del III par craneal y pedúnculo cerebral, como neoplasias intraencefálicas, aneurismas, hematomas extradurales y procesos infecciosos que se comportan como procesos expansivos. Los pacientes evaluados presentaron clínica de ptosis palpebral, visión doble vertical, dificultad para bipedestación, hemiparesia, hiporreflexia, sensibilidad superficial y profunda disminuidas, equilibrio y coordinación alterados, III par parético, habla incoherente, desorientación en tiempo, espacio y persona de manera intermitente y asimetría facial. Para la toxoplasmosis se aplicó un tratamiento específico con trimetropim-sulfametoxasol, clindamicina y prednisona por vía oral, lo cual permitió una mejoría del cuadro clínico. En el presente caso clínico se presenta la secuencia de los hechos, manejo y breve revisión de la literatura para su consideración como diagnóstico y su relevancia en el paciente con VIH-toxoplasmosis del sistema nervioso central.

This report describes the case of two male HIV-positive patients who were not receiving treatment and whose diagnosis was confirmed by serology testing. Both patients developed midbrain stroke syndrome and the structural injury, which was caused by a central nervous system infection due to cerebral toxoplasmosis, was verified by brain magnetic resonance imaging. This condition was confirmed by cerebrospinal fluid serology testing. Weber's syndrome is a very rare type of midbrain stroke syndrome with little information available on its symptoms and evolution. It was first described by Sir Herman David Weber in 1863 and is characterized by ipsilateral injury of the third cranial nerve fascicle with contralateral hemiparesis due to injury of the corticospinal and corticobulbar tracts of the cerebral peduncle. Its causes range from ischemic or hemorrhagic processes, which damage the third cranial nerve fascicle and cerebral peduncle, to brain tumors, aneurysms, extradural hematomas and infectious diseases that behave like spreading processes. The assessed patients showed clinical signs and symptoms such as ptosis; vertical double vision; difficulty standing up; hemiparesis; hyporeflexia; decreased superficial and deep sensation; poor balance and coordination; third cranial nerve palsy; slurred speech; intermittent disorientation in time, place and person; and facial asymmetry. Oral trimethoprim-sulfamethoxazole, clindamycin and prednisone were administered as specific treatment for toxoplasmosis, which enabled the improvement of the clinical picture. This case report presents the sequence of events, treatment and a brief review of the literature to be considered in the diagnosis and determine its importance in patients with HIV-toxoplasmosis of the central nervous system.

Parkes Weber syndrome / Sindrome de parkes weber

RESUMEN El Síndrome de Parkes Weber se caracteriza por sobrecrecimiento de una extremidad asociado a malformación capilar, venosa, linfática y arteriovenosa. Se presenta el caso de una paciente de 23 años de edad que acudió al Servicio de Dermatología por presentar una úlcera de novodesarrollada sobre malformación capilar congénita.Nos fue posible arribar al diagnóstico utilizando diversos estudios de imágenes, mientras que la medida terapéutica, con el carácter de profilaxis terciaria, consistió en embolizaciones múltiples.

SUMMARY Parkes Weber Syndrome is characterized by overgrowth of a limb with capillary, venous, lymphatic, and arteriovenous malformation. We present the case of a 23-year-old patient who came to the dermatology service for an ulcer on congenital capillary malformation.We were able to arrive at the diagnosis using various imaging studies, while the therapeutic measure, with the character of tertiary prophylaxis, consisted of multiple embolizations.

Cirugía de Young para el tratamiento quirúrgico de la epistaxis en telangiectasia hemorrágica hereditaria: reporte de un caso y revisión de la literatura / Young's procedure for surgical treatment of epistaxis in hereditary hemorrhagic telangiectasia: A case report and literature review

La telangiectasia hemorrágica hereditaria (THH) es una displasia vascular multisistémica, de herencia autosómica dominante, caracterizada por el desarrollo de telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales. El diagnóstico se realiza mediante los criterios de Curasao publicados en el año 2000 y su manejo requiere de un equipo multidisciplinario donde el rol del otorrinolaringólogo(a) es fundamental, puesto que la epistaxis se presenta en un 90%-95% de los pacientes siendo una de las primeras manifestaciones clínicas de la enfermedad y pudiendo amenazar la vida del paciente. En la literatura se describen múltiples alternativas de tratamiento médico y quirúrgico para la epistaxis, sin existir un tratamiento definitivo para la enfermedad. A continuación, presentaremos el caso de una paciente de 56 años con THH y epistaxis recurrentes severas que, tras no responder al tratamiento médico conservador y múltiples procedimientos quirúrgicos, se realizó el cierre nasal mediante el procedimiento de Young, constituyendo el primer caso reportado en nuestro país.

Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia, of autosomal dominant inheritance, characterized by the development of mucocutaneous telangiectasias and visceral arteriovenous malformations. The diagnosis is made using the Curafao criteria published in 2000 and its management requires a multidisciplinary team where the role of the ENTs is fundamental, since epistaxis occurs in 90%-95% of patients, being one of the first clinical manifestations of the disease and may threaten the life of the patient. Multiple medical and surgical treatment alternatives for epistaxis are described in the literature without a definitive treatment for the disease. Here, we present the case of a 56-year-old patient with severe recurrent HHT and epistaxis who, after not responding to the initial conservative and surgical treatments, a nasal closure was performed, using the Young's procedure, constituting the first case reported in our country.

Maxillary Schwannoma – A Rare Case Report

Background: Schwannoma or neurilemmoma are a type of nerve sheath tumors. Most of the literature, reports of schwan- noma in the head and neck involve tongue. Intraosseous schwannomas account to about less than 1% with affliction to the mandible over maxilla. Very few cases of maxillary schwannomas have been reported till date. Case presentation: We present one such rare case of schwannoma involving the maxilla extending till the nasal cavity in a 35 years old male. Wide excision of the lesion with hemi-maxillectomy of the right side was done using modified Weber–Fergusson approach (Dieffenbach’s extension). The patient’s postoperative recovery was uneventful without recurrence when followed up till 2 years. Conclusion: Though schwannoma of the Head and neck region are rare, they should be considered as a differential diagnosis of unilateral slow growing mass in the head and neck region, particularly in an adult.

Síndrome de Sturger Weber. Presentación clínica y manejo terapéutico / Sturger Weber syndrome. Clinical presentation and therapeutic management

RESUMEN La angiomatosis encefalotrigeminal es el más frecuente de los síndromes neurocutáneos con predominio de anomalías vasculares. Es un proceso congénito infrecuente, pero no excepcional, que afecta a uno y otro sexo por igual. Consiste, en su forma completa, en la asociación de anomalías cerebrales, cutáneas y oculares. Se presenta el caso de una paciente de un año de edad, de color de piel blanca, producto de parto eutócico, con peso de 3660 g. Al examen físico se confirmó una hipotonía generalizada, retardo en el desarrollo psicomotor; con hemangioma facial extenso bilateral, hemiparesia derecha, cuadros convulsivos tónico-clónicos. Teniendo en cuenta todos estos elementos y los resultados de una tomografía axial computarizada y un electroencefalograma, se realizó el diagnóstico de un síndrome de Sturge-Weber. La estimulación temprana del lenguaje, la parte motora y cognitiva, el entrenamiento en destrezas motoras finas es el tratamiento fisioterapéutico que debe iniciar en etapa temprana. El presente trabajo tiene como objetivo señalar lo oportuno del tratamiento para un mejor pronóstico y calidad de vida.

ABSTRACT Encephalotrigeminal angiomatosis is the most common of the neurocutaneous syndromes with a predominance of vascular abnormalities. It is a rare, but not exceptional, congenital process that affects both sexes equally. It consists, in its complete form, in the association of brain, skin and eye abnormalities. The case of a 1-year-old female patient, white skin, eutocic birth result, weighing 3660 g is presented. Physical examination confirmed patient with generalized hypotonia, delay in psychomotor development; with extensive bilateral facial hemangioma, right hemiparesis, tonic-clonic convulsive manifestation. Taking into account all these elements, the diagnosis of a Sturge-Weber syndrome is made. The early stimulation of language, the motor and cognitive part, the training in fine motor skills is the physiotherapeutic treatment that should start in an early stage. The objective of this paper is to point out the timeliness of treatment for a better prognosis and quality of life.

Enfermedad de Rendu-Osler-Weber con presentación inusual / Rendu-Osler-Weber´s disease with unusual presentation

La enfermedad de Rendu-Osler-Weber, también conocido como telangiectasia hemorrágica hereditaria, es una enfermedad genética de herencia autosómica dominante con penetrancia incompleta. Afecta por igual a ambos sexos y los síntomas se inician habitualmente entre los 20 y 40 años, pero se considera que la enfermedad está infradiagnosticada. Típicamente las formas clínicas y el debut de esta enfermedad se asocian a los órganos y tejidos que se afectan con mayor frecuencia: telangiectasias en mucosas y en piel, epistaxis, sangramiento gastrointestinal, pulmonar e intracerebral. En contraste, el caso clínico que se presenta se caracteriza porque las primeras manifestaciones clínicas que motivaron la consulta médica fueron crisis de dolores e inflamación ósea en el miembro superior derecho, lo cual es inusual y se inscribe como un elemento de novedad en la enfermedad. Es el objetivo de esta publicación exponer un caso de telangiectasia hemorrágica hereditaria con una forma de presentación atípica en una adolescente. Al alta hospitalaria, la paciente estaba estable, sin complicaciones. Se recomendó seguimiento hospitalario fundamentalmente por la especialidad de Neumología, por ser los pulmones los órganos más afectados(AU)

Rendu-Osler-Weber´s disease, also known as hereditary hemorrhagic telangiectasia, is a genetic disease of autosomal dominant inheritance with incomplete penetrance. It affects both sexes equally and symptoms usually begin between the ages of 20 and 40, but it is considered that the disease is underdiagnosed. Typically, the clinical forms and the onset of this disease are associated with the organs and tissues that are most frequently affected: mucosal and skin telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. In contrast, the clinical case that is presented is characterized because the first clinical manifestations that motivated the medical consultation were crises of pain and bone inflammation in the right upper limb, which is unusual and is inscribed as an element of novelty in the disease. The objective of this publication is to present a case of hereditary hemorrhagic telangiectasia with an atypical presentation in a female teenager(AU)

A case of Osler-Weber-Rendu syndrome associated with portal hypertension

Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder, characterised by multiple telangiectasesof the skin and mucous membranes with recurrent nasal and gastrointestinal bleedings and arteriovenous malformations of various organ systems. It is also called as hereditary hemorrhagic telangiectasia (HHT). The occurrence of telangiectases in the stomach and small bowel can result in chronic bleeding and anaemia. We report a rare case of 39 year old female with Osler Weber Rendu syndrome associated with portal hypertension. She had recurrent nasal and gastrointestinal bleeding, and presented with complaints of progressive dyspnea NYHA class III. On further evaluation she was found to have portal hypertension, which is a rare association.

Telangiectasia hemorrágica hereditaria durante el embarazo: Reporte de caso / Hereditary hemorrhagic telangiectasia during pregnancy: Case report

Resumen ANTECEDENTES: La telangiectasia hemorrágica hereditaria, o síndrome de Rendu-Osler-Weber, es una enfermedad vascular, hereditaria y autosómica caracterizada por telangiectasias mucocutáneas y malformaciones arteriovenosas en el pulmón, el cerebro e hígado. La prevalencia estimada es de 1.5 a 2 personas afectadas por cada 10,000 habitantes. El 90% de los casos se debe a una mutación en el gen endoglina y en el de la cinasa 1 similar al receptor de activina (ACVRL1). En la mujer embarazada, la telangiectasia hemorrágica hereditaria es de alto riesgo, sobre todo durante el segundo y tercer trimestre. OBJETIVO: Reportar un caso de telangiectasia hemorrágica hereditaria y exponer las complicaciones que pueden registrarse durante el embarazo. CASO CLÍNICO: Paciente de 23 años, con antecedente heredofamiliar de madre con diagnóstico de telangiectasia hemorrágica hereditaria (síndrome de Osler-Weber-Rendu) que falleció a los 38 años. Antecedente personal patológico de telangiectasia hemorrágica hereditaria, con diagnóstico a los 12 años luego de múltiples episodios de epistaxis. Recibió tratamiento con transfusiones sanguíneas en múltiples ocasiones y 200 mg de sulfato ferroso cada 24 horas. CONCLUSIÓN: La telangiectasia hemorrágica hereditaria condiciona, en la mujer embarazada, la aparición de complicaciones que pueden poner en riesgo la vida de la madre y el feto. Las mujeres con antecedente conocido deben valorarse antes de la concepción con el propósito de conocer el estado de la enfermedad.

Abstract BACKGROUND: Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal inherited vascular disease characterized by mucocutaneous telangiectasias and arteriovenous malformations in the lung, brain and liver. The estimated prevalence is 1.5 to 2 affected persons per 10,000 population. Ninety percent of cases are due to a mutation in the endoglin gene and in the activin receptor-like kinase 1 gene (ACVRL1). In pregnant women, hereditary hemorrhagic telangiectasia is high risk, especially during the second and third trimester. OBJECTIVE: To report a case of hereditary hemorrhagic telangiectasia and to expose the complications that can occur during pregnancy. CLINICAL CASE: 23-year-old patient, with hereditary family history of mother diagnosed with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who died at 38 years of age. Personal pathological history of hereditary hemorrhagic telangiectasia, diagnosed at the age of 12 years after multiple episodes of epistaxis. She was treated with multiple blood transfusions and 200 mg of ferrous sulfate every 24 hours. CONCLUSION: Hereditary hemorrhagic telangiectasia conditions, in pregnant women, the appearance of complications that can put the life of the mother and fetus at risk. Women with a known history should be evaluated before conception in order to know the status of the disease.

Clinical significance of lesion distribution in children with Sturge-Weber syndrome / 中华皮肤科杂志

Objective:To analyze distribution characteristics of facial port-wine stains and brain imaging features in children with Sturge-Weber syndrome (SWS) .Methods:Clinical and imaging data were collected from 22 children with confirmed SWS at Department of Dermatology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to August 2020, and retrospectively analyzed. The distribution characteristics of port-wine stains along the facial trigeminal nerve and brain imaging features were investigated in these children with SWS.Results:Among the 22 children, 10 were males and 12 were females. Their age ranged from 0.08 to 9.92 years, and the median age was 1.67 years. There were 13 cases of SWS type Ⅰ and 9 cases of SWS type Ⅱ. In terms of the port-wine stain type, 4 children aged from 0.50 to 2.17 years were diagnosed with pink port-wine stains; 14 children aged from 0.08 to 8.83 years were diagnosed with purple port-wine stains; 4 children aged from 4.92 to 9.92 years were diagnosed with thickened port-wine stains. Port-wine stains were distributed in the ophthalmic (V1) division of the trigeminal nerve in 22 patients, in the maxillary (V2) division in 20 patients, and in the mandibular (V3) division in 8 patients. There were 17 children with ocular abnormalities, aged from 0.08 to 9.92 years, including 11 with glaucoma, 5 with elevated intraocular pressure and 2 with visual impairment. Among the children with glaucoma, 7 developed glaucoma within 2 years of age, 8 suffered from unilateral glaucoma, and 3 from bilateral glaucoma, and glaucoma occurred on the same side as port-wine stains. Brain imaging abnormalities were observed in 12 children, and mainly included vascular malformations in the cerebral cortex involving the frontal, parietal, temporal and occipital lobes, as well as cerebral atrophy, punctate hemorrhage, calcification, sulcal widening, midline deviation and increased intraventricular choroid plexus vessels. Eleven children had symptoms of epilepsy and other neurological manifestations, including developmental delay, mental retardation and physical impairment.Conclusion:Port-wine stains distributed in the V1 and V2 divisions of the facial trigeminal nerve may indicate a higher risk of SWS, and ophthalmic and brain imaging screening as well as long-term follow-up should be performed.

Sangramento gastrointestinal em paciente portador de síndrome de Rendu-Osler-Weber: relato de caso / Gastrointestinal bleeding in a patient with Osler-Weber-Rendu syndrome: a case report / Sangrado gastrointestinal en paciente con síndrome de Rendu-Osler-Weber: reporte de caso

A síndrome de Rendu-Osler-Weber, ou telangiectasia hemorrágica hereditária (THH), é uma doença autossômica dominante de penetrância variável que altera a camada muscular e elástica da parede dos vasos sanguíneos, causando neles grande fragilidade e dilatação e tornando-os suscetíveis a sangramentos secundários, a traumatismos e malformações arteriovenosas (MAV) ­ sendo elas as mais comuns no cérebro, nos pulmões e no trato gastrointestinal e hepático. Este relato de caso tem como objetivo realizar uma revisão sobre essa síndrome, bem como a respeito da melhor terapia e do melhor manejo para sangramentos gastrointestinais por angiectasias. Trata-se de uma paciente de 62 anos de idade, com episódio de hematêmese e melena recorrentes, que foi admitida instável hemodinamicamente e com queda importante dos níveis de hemoglobina, necessitando de múltiplas transfusões sanguíneas. Após entrevista clínica, que chamou a atenção para o histórico familiar de quadros similares, epistaxes recorrentes associados ao exame físico e angiectasias gástricas à endoscopia digestiva alta, foi atribuído o diagnóstico de síndrome de Rendu-Osler-Weber. Angiectasias foram erradicadas com terapia endoscópica usando plasma de argônio. A THH é uma doença subdiagnosticada que merece atenção especial por conta do seu risco de causar hemorragias graves com expressão fenotípica mais aflorada com o avançar da idade. Por seu cunho hereditário, faz-se necessário um acompanhamento médico linear com a família para evitar complicações secundárias da doença, bem como para o manejo adequado de suas apresentações.

Osler-Weber-Rendu syndrome or hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that changes the muscular and elastic layer of the blood vessel wall, making them fragile and more susceptible to bleeding secondary to trauma and arteriovenous malformations (AVM) ­ a condition that commonly affects the brain, lungs, gastrointestinal tract, and liver. This study aims to perform a literature review on this syndrome, as well as on the best treatment and management for gastrointestinal bleeding from angioctasia. To this end, it reports the case of a 62-year-old female patient with recurrent episodes of hematemesis and melena, who was admitted to hospital with hemodynamic instability and low hemoglobin levels, requiring multiple blood transfusions. After clinical interview, which indicated family history of recurrent epistaxis, physical examination, and upper digestive endoscopy showing gastric angiectasias, the patient was diagnosed with Osler-Weber-Rendu syndrome. Angiectasias were treated with endoscopic argon plasma. Considering the risk of severe hemorrhages and its more pronounced phenotypic expression with advancing age, HHT is an underdiagnosed disease that deserves special attention. Due to its hereditary nature, a linear medical follow-up with the family is necessary to avoid secondary complications of the disease, as well as the proper management of its presentations.

El síndrome de Rendu-Osler-Weber o telangiectasia hemorrágica hereditaria (THH) es una enfermedad autosómica dominante de penetrancia variable, que modifica la capa muscular y elástica de la pared de los vasos sanguíneos, provocando una gran fragilidad y dilatación de estas, haciéndolas susceptibles a hemorragias secundarias a trauma y malformaciones arteriovenosas (MAV), que son las más comunes en el cerebro, pulmones, tracto gastrointestinal e hígado. Este estudio tiene como objetivo realizar una revisión de este síndrome, así como la mejor terapia y manejo del sangrado gastrointestinal por angioctasia en esta patología. Se trata de un paciente de 62 años, con episodio de hematemesis recurrente y melena, que ingresa hemodinámicamente inestable y con descenso significativo de los niveles de hemoglobina, requiriendo múltiples transfusiones sanguíneas. Tras entrevista clínica, destacando los antecedentes familiares de patologías similares, epistaxis recurrente, exploración física y angiectasias gástricas a endoscopia digestiva alta, se asignó el diagnóstico de síndrome de Rendu-Osler-Weber. Las angiectasias se erradicaron con terapia endoscópica con plasma de argón. La HHT es una enfermedad infradiagnosticada que merece una atención especial por su riesgo de hemorragias severas, con una expresión fenotípica más pronunciada con el avance de la edad. Además de su carácter hereditario, es necesario un seguimiento médico lineal con la familia para evitar complicaciones secundarias de la enfermedad, así como el adecuado manejo de sus presentaciones.

Cauterización transoral de la arteria maxilar interna en la fosa infratemporal: informe de un caso / Transoral cauterization of the internal maxillary artery in the infratemporal fossa: case report

Se describe el caso clínico de una paciente de 84 años que tuvo epistaxis recidivante por padecer enfermedad de Rendu-Osler-Weber. Tuvo antecedentes de diversos tratamientos quirúrgicos que incluyeron el cierre de la fosa nasal izquierda (operación de Young). Por la persistencia de epistaxis izquierda se indicó una angiografía y embolización. Esta última no se hizo porque se diagnosticaron anastomosis entre el sistema carotídeo externo y el interno. Se realizó un abordaje intraoral paramaxilar asistido con endoscopios para cauterizar la arteria maxilar interna en la fosa infratemporal y un abordaje externo para cauterizar la arteria etmoidal anterior solucionando la epistaxis. (AU)

The clinical case of an 84-year-old patient who had recurrent epistaxis due to Rendu-Osler- Weber disease is described. She had a history of various surgical treatments including closure of the left nostril (Young's operation).Due to the persistence of left epistaxis, angiography and embolization were indicated. The latter was not done because anastomosis between the external and internal carotid system was diagnosed. An intraoral paramaxillary approach assisted with endoscopes was performed to cauterize the internal maxillary artery in the infratemporal fossa and an external approach to cauterize the anterior ethmoidal artery solving the epistaxis. (AU)

Pulsatile varicose veins: an uncommon presentation of a common condition / Varizes pulsáteis: uma apresentação incomum de uma condição comum

Abstract Varicose veins of the lower limbs are common. However, pulsatile varicose veins are unusual. They could be an indicator of a sinister underlying pathology, such as severe cardiac dysfunction. It is easy to miss these rare cases during clinical workup, which can result in futile treatment with potentially dangerous consequences. In this report, we describe 2 cases of pulsatile varicose veins that highlight different etiologies and management strategies for this condition.

Resumo Varizes dos membros inferiores são comuns. Entretanto, varizes pulsáteis são raras, podendo ser indicadoras de uma patologia subjacente sombria como disfunção cardíaca grave. É fácil deixar passar esses casos raros durante exames clínicos, o que pode resultar em tratamento fútil com consequências potencialmente perigosas. Neste relato, descrevemos dois casos de varizes pulsáteis que evidenciam as diferentes etiologias e estratégias de manejo para essa condição.

Clinical and imaging features of 27 cases of childhood Sturge-Weber syndrome / 中华皮肤科杂志

Objective:To analyze clinical and imaging features of Sturge-Weber syndrome in children.Methods:Clinical data were collected from 27 children with Sturge-Weber syndrome in Xuzhou Children′s Hospital, Xuzhou Medical University from July 2013 to December 2019, and analyzed retrospectively.Results:Among the 27 children, 17 were males and 10 were females. Their age at the clinic visit ranged from 2 days to 10 years and 7 months, and averaged 2.54 years. All the 27 patients presented with facial port-wine stains of varied color from light red to purple red, which were all distributed across the facial midline, including 21 with predominantly unilateral port-wine stains and 6 with bilateral symmetrical port-wine stains. There were 17 patients with ocular choroidal vascular malformations, including 14 with congenital glaucoma, 5 with high intraocular pressure, and 1 with optic nerve atrophy accompanied by transient blindness. Neurological impairment occurred in 12 patients, and all manifested as epilepsy. All the 27 children underwent imaging examination, and abnormalities were found in 20. Among the 10 patients with abnormal computed tomography images, local calcification was observed in 8, and local thickening of the skull on the side affected by skin lesions in 8; 13 of 14 patients with abnormal magnetic resonance imaging scan results had signs of brain atrophy, 9 showed enhanced gyrus-like blood vessel formation by enhanced magnetic resonance imaging, and 5 showed decreased branches of the anterior and middle cerebral artery on the affected facial side by magnetic resonance angiography.Conclusions:Children with Sturge-Weber syndrome are clinically characterized by predominantly unilateral port wine stains on the face, some of whom are accompanied by epilepsy, glaucoma or mental retardation, and imaging examinations mainly show local calcification, brain atrophy, local thickening of the skull plate, enhanced gyrus-like blood vessel formation, etc. Early definite diagnosis and comprehensive systemic treatment are needed to reduce disability and mortality rates in patients with Sturge-Weber syndrome, and long-term follow-up should be considered.

Desenlaces clínicos y radiológicos de las fracturas de maléolo lateral manejadas de forma percutánea. Serie de casos / Clinical and radiological outcomes of percutaneously managed lateral malleolar ankle fractures. Case series

Introducción El estándar de manejo para las fracturas del peroné distal es la reducción abierta más fijación interna con placa y tornillos (bloqueados o no), sin embargo, existen complicaciones asociadas a este tipo de intervención. En pacientes ancianos con mala calidad de tejidos blandos o en quienes presentan traumas de alta energía como etiología de las fracturas en el tobillo, la tasa de complicaciones previamente mencionadas aumenta, por lo que el manejo de las fracturas de peroné distal con tornillos percutáneos representa una alternativa con menor riesgo de complicaciones y con desenlaces similares al manejo convencional. Materiales y métodos Se realiza una serie de casos de pacientes con fractura de peroné manejados de forma percutánea. Se obtuvo una muestra de 17 pacientes por un año, a quienes se les realizó seguimiento sobre tasa de consolidación, funcionalidad y complicaciones postoperatorias. Resultados Diez (62,5%) fueron hombres, con una media de edad de 59 años (rango entre 24 y 90). El 100% fueron secundarios a traumas de alta energía, 10 (62,5%) fueron izquierdas, 14 (87,5%) se clasificaron como Weber B y 7 casos (56,25%) se presentaron concomitantemente con fracturas abiertas. Conclusiones Con el fin de evitar complicaciones, se debe considerar este abordaje en pacientes con comorbilidades, de edad avanzada o con tejidos blandos lesionados severamente o de mala calidad

Background The standard management for distal fibula fractures is open reduction plus internal fixation with plate and screws (blocked or not), however, there are complications associated with this type of intervention. In elderly patients with poor soft tissue quality or in those with high-energy trauma as the etiology of ankle fractures, the rate of previously mentioned complications increases, so that the management of distal fibula fractures with percutaneous screws represents a alternative with lower risk of complications and similar outcomes to conventional management. Methods A series of cases of patients with fibula fracture managed percutaneously was carried out. A sample of 17 patients was obtained for one year, who were followed up on consolidation rate, functionality, and postoperative complications. Results 10 (62.5%) were men, with a mean age of 59 years (range between 24 and 90). 100% were secondary to high-energy trauma, 10 (62.5%) were left, 14 (87.5%) were classified as Weber B and 7 cases (56.25%) presented concomitantly with open fractures. Discussion In order to avoid complications, this approach should be considered in patients with comorbidities, the elderly, or those with severely injured or poor-quality soft tissues.

Dental care challenges in Sturge-Weber syndrome: a case report / Desafios do tratamento odontológico na síndrome de Sturge-Weber: relato de caso

Introduction: Sturge-Weber syndrome (SWS) is a rare condition characterized by facial capillary malformation, involves ocular, neurological, and cutaneous alterations. Associated with unilateral characteristic port-wine stains, gingival growth and purple-red coloration. Aim: his case aims to report dental treatment challenges in patients with SWS and importance of oral health maintenance in these individuals. Case report: a 20-year-old woman with an established diagnosis of SWS, presented bad breath and spontaneous gingival bleeding, with gingival growth and reddish-purple spots spread to labial and alveolar mucosa, tongue, and palate. Conditioning of the patient's oral environment by supra and subgingival scraping, dental unit extraction was performed. A conservative treatment plan was adopted for management adequacy of oral environment owing to possible complications inherent to the condition. Conclusion: it is important to emphasize the importance of dental surgeon's performance in relation to a multidisciplinary health team, as well as cooperation of patient, to obtain better results from the proposed therapy.

Introdução: a síndrome de Sturge-Weber (SSW) é uma condição rara caracterizada por malformação capilar facial, envolve alterações oculares, neurológicas e cutâneas. Associada a manchas unilaterais características do vinho do porto, crescimento gengival e coloração vermelho-púrpura. Objetivo: este caso tem como objetivo relatar desafios do tratamento odontológico em pacientes com SSW e a importância da manutenção da saúde bucal nesses indivíduos. Relato de caso: paciente do sexo feminino, 20 anos, com diagnóstico estabelecido de SSW, apresentou mau hálito e sangramento gengival espontâneo, com crescimento gengival e manchas roxas avermelhadas espalhadas pela mucosa labial e alveolar, língua e palato. Condicionamento do ambiente oral do paciente por raspagem supra e subgengival, foi realizada extração da unidade dental. Foi adotado um plano de tratamento conservador para adequação do manejo do ambiente bucal devido a possíveis complicações inerentes à condição. Conclusão: é importante enfatizar a importância do desempenho do cirurgião-dentista em relação a uma equipe multidisciplinar de saúde, bem como a cooperação do paciente, para obter melhores resultados com a terapia proposta.

Síndrome congénito de Klippel-Trenaunay-Weber: caso clínico / Congenital Klippel-Trenaunay-Weber syndrome: clinical case

RESUMEN: El síndrome de Klippel-Trenaunay-Weber (SKTW) es una enfermedad congénita poco frecuente caracterizada por hipertrofia de un miembro que afecta a los huesos y a las partes blandas, con extensos angiomas planos, várices y otras anomalías vasculares, como fístulas arteriovenosas. Su incidencia es de 1:100.000 personas. El objetivo fue describir un caso raro de SKTW bilateral, confirmado con hallazgos clínicos e imagenológicos en un niño de 9 años de edad, de sexo masculino, con antecedentes de sangrado digestivo bajo, herniorrafía inguinal izquierda y orquidopexia ipsilateral. En ambos miembros inferiores se identificaron lesiones hemangiomatosas e hipertrofia muscular y edema en miembro inferior izquierdo con ausencia de segundo y tercer dedos del pie izquierdo por antecedente quirúrgico de amputación. Adicionalmente, presentaba adenopatías cervicales e inguinales. Dentro de los hallazgos radiográficos importantes, se observó una cortical ósea delgada en el fémur del miembro inferior izquierdo. El SKTW afecta típicamente a los miembros inferiores de forma unilateral; este es un caso infrecuente de afección bilateral (con predominio izquierdo). Algunos pacientes, registran compromiso visceral con hemorragia digestiva baja, además de alteraciones genitourinarias, presentes en el 30% de los casos. La presentación de adenopatías es inusual.

SUMMARY: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disease characterized by limb hypertrophy affecting bones and soft tissues, with extensive flat angiomas, varicose veins, and other vascular abnormalities, such as arteriovenous fistulas. Its incidence is 1: 100,000 people. The aim of this work was to describe a rare case of bilateral KTWS, confirmed with clinical and imaging findings in a 9-year-old male, with a history of lower gastrointestinal bleeding, left inguinal herniorrhaphy and ipsilateral orchidopexy. In both lower limbs, hemangiomatous lesions and muscle hypertrophy were identified, and in the left lower limb edema was identified with absence of the second and third toes due to a surgical history of amputation. Additionally, the patient presented cervical and inguinal lymphadenopathy. Among the important radiographic findings, in the left lower limb femur a thin bony cortex was observed. KTWS typically affects the lower limbs unilaterally; this is an infrequent case of bilateral affection (predominantly left). Some patients have visceral involvement with lower gastrointestinal bleeding, as well as genitourinary alterations, present in 30 % of cases. The presentation of lymphadenopathy is unusual.

Exohidrolasas fructosílicas y su importancia en el metabolismo de fructanos en Agave tequilana Weber var. azul / Fructan exohydrolases y its importance in the metabolism of fructans in Agave tequilana Weber var. azul / Exoidrolases de frutanos e sua importância no metabolismo de frutanos em Agave tequilana Weber var. azul

Resumen Los fructanos son carbohidratos de estructura química diversa distribuidos en diferentes taxa. En las plantas, además de constituir una importante fuente de carbono, han sido asociados con la tolerancia a diferentes tipos de estrés. La biosíntesis de estos compuestos se lleva a cabo por la acción de las enzimas fructosiltransferasas, mientras que su degradación es mediada por las exohidrolasas fructosílicas, ambos tipos forman parte de la familia 32 de las enzimas hidrolasas glicosídicas. Las exohidrolasas fructosílicas son exoenzimas que liberan secuencialmente residuos de fructosa terminales de los fructanos para hacerlos disponibles como fuente de carbono en diferentes procesos celulares o bien moléculas de señalización. En esta revisión se hace una descripción de los fructanos y las exohidrolasas fructosílicas en algunas plantas importantes para el consumo humano y para el aprovechamiento industrial, con un enfoque particular en el género Agave, específicamente en A. tequilana. Concluimos, que el estudio de las exohidrolasas fructosílicas en agaves podría ser útil en varias aplicaciones biotecnológicas como en la hidrólisis de estructuras de fructanos no digeridos durante la etapa de cocción del agave en el proceso de producción de tequila. Sin embargo, el primer paso es conocer la funcionalidad de estas enzimas, lo que podría facilitar su incorporación en diferentes procesos biotecnológicos.

Abstract Fructans are carbohydrates of diverse chemical structure that are distributed in different taxa. In plants, in addition to be an important source of carbon, they have been associated with tolerance to different types of stress. The biosynthesis of these compounds is carried out by the action of enzymes called fructosyltransferases, while their degradation is mediated by fructan exohydrolases, both types are part of the 32 family of glycosidic hydrolase enzymes. Fructan exohydrolases are exo-enzymes that sequentially release terminal fructose residues from fructans to make them available as carbon sources for different cellular processes or as signaling molecules. In this review, a description is made of fructans, y of fructosyl exohydrolases in some plants important for human consumption or for industrial use, such as the Agave genus, specifically in A. tequilana. We conclude that the study of fructan exohydrolases in agaves could be useful in various biotechnological applications, for example, in the hydrolysis of undigested fructan structures during the agave cooking stage in the tequila production process. However, the first step is to determinate the enzymatic activity in which they are involved, for its posterior inclusion in biotechnology processes.

Resumo Os frutanos são carboidratos de estrutura química diversificada distribuídos em diferentes táxons. Nas plantas, além de serem uma importante fonte de carbono, eles têm sido associados à tolerância a diferentes tipos de estresse. A biossíntese desses compostos é realizada pela ação das enzimas fructosiltransferases, enquanto sua degradação é mediada por frutossil exohidrolases, ambos os tipos fazem parte da família 32 de enzimas glicosídicas da hidrolase. As exo-hidrolases de frutossil são exo-enzimas que liberam seqüencialmente resíduos terminais de frutose dos frutanos para torná-los disponíveis como fonte de carbono em diferentes processos celulares, ou como sinalizadores. Nesta revisão, é feita uma descrição dos frutanos e das frutossil exohidrolases em algumas plantas importantes para o consumo humano ou para uso industrial, como o gênero Agave, especificamente no A. tequilana. Concluímos que o estudo de frutossil exo-hidrolases em agaves pode ser útil em várias aplicações biotecnológicas, por exemplo, na hidrólise de estruturas de frutano não digeridas durante a fase de cozimento da agave no processo de produção de tequila. Para isso, o primeiro passo é conhecer o tipo de atividade enzimática que eles desempenham, para sua posterior inclusão no campo da biotecnologia.