Actualización en anomalías vasculares de la órbita en pediatría: diagnóstico por imágenes y tratamiento / Update on orbital vascular anomalies in pediatrics: imaging studies and management

Las anomalías vasculares de la órbita (AVO) son un grupo heterogéneo de patologías que pueden presentarse con frecuencia en el cono orbitario, la región periorbitaria o dentro de la órbita misma. Las AVO se dividen en tumores y malformaciones. Su presentación clínica más frecuente es el exoftalmos, asociado o no a alteración del eje visual. Además, pueden presentar complicaciones agudas, como hemorragia intralesional o celulitis entre las más frecuentes, y complicaciones crónicas, como ambliopía y afectación de la agudeza visual a largo plazo. La evolución de las técnicas de imágenes, el uso de nuevos fármacos y la utilización de innovadores procedimientos en radiología intervencionista han posibilitado obtener una mejora significativa en los procesos diagnósticos y terapéuticos de estos pacientes, permitiendo un diagnóstico y tratamiento preciso.

Orbital vascular anomalies (OVAs) are a heterogeneous group of disorders frequently found in the orbital cone, the periorbital region, or within the orbit itself. OVAs are divided into tumors and malformations. The most frequent clinical presentation is exophthalmos, associated or not with an alteration of the visual axis. They may also cause acute complications, being intralesional bleeding or cellulitis the most frequent, and chronic complications, such as amblyopia and long-term visual acuity impairment. The development of imaging techniques, the use of new drugs, and the implementation of innovative procedures in interventional radiology have resulted in a significant improvement in the diagnostic and therapeutic approaches to these patients, essential to an accurate diagnosis and management.

Rare case of concomitant juxtarenal aortic aneurysm and type 1 Inferior Vena Cava duplication: -intraoperative challenges to avoid catastrophe / Caso raro de aneurisma de aorta justarrenal e duplicação do tipo 1 concomitantes na veia cava inferior - desafios intraoperatórios para evitar catástrofes

Abstract Duplication of the inferior vena cava is a rare congenital anomaly, with an incidence of 0.2-3%. Despite being asymptomatic, anomalies of IVC are important in aortoiliac and retroperitoneal surgeries. Preoperative CT imaging is essential to identify any IVC anomaly and to prevent unexpected hemorrhage during surgery. Here, we report a case of a juxtarenal abdominal aortic aneurysm in which we encountered a type I IVC duplication anomaly intraoperatively while performing transperitoneal aneurysmorrhaphy and took precautions to avoid any iatrogenic injuries to either of the two trunks or the pre-aortic trunk of the anomalous duplicate IVC.

Resumo A duplicação da veia cava inferior (VCI) é uma anomalia congênita rara com incidência de 0,2 a 3%. Apesar de assintomáticas, anomalias da VCI são importantes em cirurgias aortoilíacas e retroperitoneais. A imagem da tomografia pré-operatória é essencial para identificar qualquer anomalia de VCI e para evitar hemorragia inesperada durante a cirurgia. Relatamos um caso de aneurisma de aorta abdominal justarrenal, no qual encontramos uma anomalia de duplicação de VCI do tipo 1 intraoperatório enquanto realizávamos correção cirúrgica de aneurisma transperitoneal. Por isso, tomamos a precaução para evitar qualquer lesão iatrogênica nos dois troncos e no tronco pré-aórtico de VCI duplicada anômala.

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.

Inverse klippel-trenaunay syndrome / Síndrome de klippel-trenaunay inverso

ABSTRACT Objective: To report a rare case of inverse Kipplel-Trenaunay. Case description: A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue. Comments: Inverse Klippel-Trenaunay is a Klippel-Trenaunay syndrome variation in which there are capillary and venous malformations associated to hypotrophy or shortening of the affected limb. Modifications on the limb's length or width result from alterations in bones, muscles, or subcutaneous tissues. It has few described cases. Further clinical and molecular studies must be performed for a proper understanding.

RESUMO Objetivo: Relatar um caso raro de Klippel-Trenaunay inverso. Descrição do caso: Menina de 16 anos com placa deprimida acinzentada na coxa esquerda, evidenciando-se, por meio de angioressonância, uma malformação vascular, acometendo a pele e tecidos subcutâneos. Comentários: Klippel-Trenaunay inverso é uma variante da síndrome de Klippel-Trenaunay em que há malformação capilar e venosa associada à hipotrofia ou encurtamento do membro afetado. Pode envolver acometimento ósseo, muscular ou subcutâneo, modificando o comprimento ou a circunferência do membro. Há poucos casos descritos, e mais estudos clínicos e moleculares precisam ser realizados para seu correto entendimento.

Rare association between atrioventricular septal defect and partial anomalous pulmonary venous connection

Abstract Clinical data: Infant, 7 months, female, referred to our department at one month of age, suspecting of congenital heart disease for further investigation. Chest radiography: Demonstrates cardiomegaly and prominent pulmonary vascular markings. Electrocardiography: Shows right ventricular hypertrophy and left anterior fascicular block. Echocardiography: Evidenced common atrioventricular valve with two orifices and the left superior pulmonary vein draining on the brachiocephalic vein. Computed tomography angiography: This complementary imaging exam was performed to confirm the diagnosis. Diagnosis: The patient presented an association between AVSD and PAPVC, a rare combination. The clinical picture of heart failure was preponderant, characterized by need for diuretics and complementary exams findings, and early surgical treatment was indicated. Operation: The operation was performed through a median sternotomy with 123 minutes of cardiopulmonary bypass and 89 minutes of cross-clamping time. The patient had no postoperative complications, remaining 10 days hospitalized.

Congenital intrahepatic portosystemic shunt diagnosed during intrauterine life / Shunt portossistêmico congênito intra-hepático diagnosticado na vida intrauterina

Abstract Objective: To report a patient with prenatal diagnosis of portosystemic shunt; a rare condition in humans. Case description: 17-Day-old female infant admitted for investigation of suspected diagnosis of portosystemic shunt, presumed in obstetric ultrasound. The hypothesis was confirmed after abdominal angiography and liver Doppler. Other tests such as echocardiography and electroencephalogram were performed to investigate possible co-morbidities or associated complications, and were normal. We chose conservative shunt treatment, as there were no disease-related complications and this was intrahepatic shunt, which could close spontaneously by the age of 2 years. Comments: Portosystemic shunt can lead to various complications such as hepatic encephalopathy, hypergalactosemia, liver tumors, and hepatopulmonary syndrome. Most diagnoses are done after one month of age, after such complications occur. The prenatal diagnosis of this patient provided greater security for the clinical picture management, as well as regular monitoring, which allows the anticipation of possible complications and perform interventional procedures when needed.

Resumo Objetivo: Descrever a história clínica de paciente com diagnóstico pré-natal de shunt portossistêmico, condição rara na espécie humana. Descrição do caso: Recém-nascido do sexo feminino internada aos 17 dias para investigação de suspeita diagnóstica de shunt portossistêmico, aventada na ecografia obstétrica. A hipótese foi confirmada após angiotomografia do abdome e ecodoppler hepático. Outros exames, como ecocardiograma e eletroencefalograma, foram feitos para investigação de possíveis comorbidades ou complicações associadas e tiveram resultados normais. Optou-se por tratamento conservador do shunt, já que não havia quaisquer complicações relacionadas à doença e tratava-se de shunt intra-hepático, que pode fechar espontaneamente até os dois anos de idade. Comentários: O shunt portossistêmico pode levar a diversas complicações, como encefalopatia hepática, hipergalactosemia, tumores hepáticos e síndrome hepatopulmonar. A maioria dos diagnósticos é feita a partir de um mês de vida, após tais complicações ocorrerem. O diagnóstico pré-natal dessa paciente possibilitou maior segurança para o manejo do quadro, bem como um acompanhamento periódico que permite antecipar possíveis complicações e adotar conduta intervencionista, se necessário.

What is your diagnosis?

Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

Malformaciones vasculares: actualización en diagnóstico por imágenes y tratamiento / Vascular malformations: an update on imaging and treatment

Las malformaciones vasculares componen un amplio y heterogéneo espectro de lesiones, que frecuentemente se presentan como un desafío diagnóstico y terapéutico para el pediatra. El uso de una nomenclatura inadecuada durante mucho tiempo ha llevado a confusión. Dado que el tratamiento de esta patología depende de cada tipo de malformación vascular, su correcta clasificación e identificación es crucial. El objetivo es brindar la información necesaria sobre la clasificación y denominación actual de las malformaciones vasculares y los conceptos básicos sobre las herramientas disponibles para el diagnóstico y tratamiento de esta compleja patología.

Vascular malformations comprise a broad and heterogeneous range of lesions that often represent a diagnostic and therapeutic challenge for the pediatrician. For a long time, the use of an inaccurate nomenclature has led to confusion. Since management depends on the specific vascular malformation, a proper classification and identification is critical. The objective of this article is to provide the necessary information about the current classification and terminology of vascular anomalies, including basic concepts about available imaging diagnostic and therapeutic tools for the management of such complex condition.

Aberrant Ovarian Artery Arising from the Common Iliac Artery: Case Report

A 46-year-old Vietnamese woman received embolization therapy in order to control postpartum hemorrhage. Angiography revealed an aberrant ovarian artery arising from the right common iliac artery. Superselective catheterization and subsequent embolization of the aberrant ovarian artery and bilateral uterine arteries were performed. Precise knowledge of the anatomic variations of the ovarian artery is important for successful embolization.

Embolization of congenital intrahepatic porto-systemic shunt by n-butyl cyanoacrylate.

Congenital intrahepatic portosystemic venous shunt (IHPSVS) is rare vascular anomaly. We present one case of a 14- month male child who presented with global developmental delay. Child had high ammonia levels with low glutamine and high bile salts on the previous investigations and had history of neonatal seizures since day 13 of life. On admission, serum ammonia levels were elevated to 112μmol/L. Other laboratory investigations including liver and renal function test, and electrolytes were normal. He was, diagnosed to have IHPSVS on the basis of Doppler and CT, and treated by embolization with n-butyl cyanoacrylate (glue). A brief review of diagnostic modalities and endovascular management for the IHPSVS is presented including the present case.

Anomalías vasculares de partes blandas: imágenes diagnósticas / Vascular anomalies of soft tissues: diagnostic images

Vascular anomalies include different pathologies as hemangiomas and vascular malformations, however they usually are reported together and confusion is created. Mülliken and Glowacki proposed a classification posteriorly, modificated, adapted and actually in use. Unfortunately is not sufficiently known for our radiologist. Classification and imaging correlation of soft-tissue vascular anomalies are revised, since a exact diagnosis is a great value for appropriate treatment and prognosis.

Las anomalías vasculares han sido tradicionalmente tratadas en conjunto aun cuando engloban patologías tan diferentes como hemangiomas y malformaciones vasculares. La clasificación dada a conocer por Mülliken y Glowacki, modificada posteriormente, no es suficientemente conocida ni usada en nuestro medio. Se revisa la clasificación actual y la correlación con imágenes de aquellas anomalías vasculares situadas en partes blandas, dada la importancia que tiene un correcto diagnóstico para la terapéutica y pronóstico de los pacientes con estas lesiones.