RESUMO
Resumen: El síndrome de Klippel-Trénaunay con linfangiectasia intestinal primaria asociada es una entidad de aparición poco frecuente en pediatría. Se presenta con edemas por hipoproteinemia y, en algunos casos, con ascitis. El objetivo es presentar un caso clínico cuyo diagnóstico fue certificado mediante endoscopía intestinal y biopsia. Debido a la ascitis refractaria, el tratamiento fue quirúrgico y se realizó derivación peritoneo venosa. El manejo anestésico de este tipo de pacientes se ha descrito en informes limitados, por lo que en el presente caso hacemos énfasis en la terapia de soporte con perfusión de albúmina como tratamiento sintomático propuesto para pacientes con drenaje masivo de ascitis.
Abstract: Klippel-Trénaunay syndrome with associated primary intestinal lymphangiectasia is a rare entity in pediatrics. It presents with edema due to hypoproteinemia, and in some cases with ascites. The objective is to present a clinical case whose diagnosis was certified by intestinal esdoscopy and biopsy. For refractary ascities, the treatment was surgical, performing peritoneal venous bypass. The anesthetic management of this type of patients has been described in limited reports, so in the present case we emphasize supportive therapy with albumin infusion as the proposed symptomatic treatment for patients with massive drainage of ascities.
RESUMO
La mucopolisacaridosis tipo III B es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima N-acetil-alfa-d-glucosaminidasa, implicada en el catabolismo del heparán sulfato, que produce su acúmulo en diversos tejidos. Se presenta a un paciente de 8 años, afectado de mucopolisacaridosis tipo III B, con historia de diarrea crónica y hallazgos endoscópicos e histológicos compatibles con linfangiectasia intestinal. Tras tratamiento dietético con restricción de ácidos grasos de cadena larga y rica en triglicéridos de cadena media, presentó mejoría clínica, mantenida hasta la actualidad.La patogenia de la diarrea crónica en pacientes con mucopolisacaridosis tipo III B es aún desconocida. Debe investigarse la presencia de linfangiectasia intestinal en estos pacientes e iniciar, en caso de confirmarse, un tratamiento dietético adecuado para mejorar así su calidad de vida.
Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old patient with mucopolysaccharidosis type IIIB, with a history of chronic diarrhea and endoscopic and histological findings compatible with intestinal lymphangiectasia. After a dietary treatment with a low-fat diet supplemented with medium-chain triglyceride, our patient presents clinical improvement until today. The pathogenesis of chronic diarrhea in patients with mucopolysaccharidosis type IIIB is still unknown. The presence of intestinal lymphangiectasia in these patients should be investigated, and appropriate dietary treatment should be initiated, if confirmed, to improve their quality of life.
Assuntos
Humanos , Masculino , Criança , Linfangiectasia Intestinal/diagnóstico por imagem , Doenças por Armazenamento dos Lisossomos , Mucopolissacaridose III , Dieta com Restrição de Gorduras , Diarreia , Linfangiectasia Intestinal/terapiaRESUMO
Lymphangiectasia is a heterogenous inflammatory bowel disease characterized by lymphatic vessel dilation, chronic diarrhea and protein loss such as serum albumin and globulin. The most common cause of lymphangiectasia is considered to be the congenital malformation of the lymphatics. The study was conducted between 2012-2015 on 76 dogs suffering from intestinal disorders and manifesting digestive symptoms such as diarrhea or weight loss. In order to assess the origin of disorder, physical examination, biochemistry profile, ultrasound and endoscopic examinations were performed. Ultrasound examination tried to assess the changes of intestines' echogenicity, changes in wall thickness, wall layering and presence of striations or / and speckles (hyperechoic structures along intestinal mucosal layer). Endoscopic examination ï¬ndings included dilated lacteals (59.2%) and erythema (21.1%). Although increased friability was observed in 33 dogs, it was not considered in the study due to limitations represented by the evaluation of the endoscopic images only. The study proved that an extremely significant statistical correlation exists between the presence of speckles and dilated lacteals in dogs with lymphangiectasia (P<0.05). Up to now, there is no other study to make an association between the white spots observed in ultrasound examination and dilated lacteals revealed after endoscopy in dogs with intestinal lymphangiectasia.(AU)
A linfangiectasia é uma doença inflamatória intestinal heterogênea, caracterizada por dilatação dos vasos linfáticos, diarreia crônica e perda de proteínas, como albumina sérica e globulina. A causa mais comum de linfangiectasia é considerada a malformação congênita dos linfáticos. O presente estudo foi realizado entre 2012 e 2015, em 76 cães que sofrem de distúrbios intestinais e manifestam sintomas digestivos, como diarreia ou perda de peso. Para avaliar a origem do distúrbio, foram realizados exame físico, perfil bioquímico, ultrassonográfico e endoscópico. O exame ultrassonográfico tentou avaliar as alterações da ecogenicidade do intestino, as alterações na espessura da parede, a estratificação e a presença de estrias e / ou de manchas (estruturas hiperecoicas ao longo da camada mucosa intestinal). Os resultados do exame endoscópico incluíram lacteais dilatadas (59,2%) e eritema (21,1%). Embora tenha sido observada maior friabilidade em 33 cães, ela não foi considerada no estudo devido às limitações representadas pela avaliação apenas das imagens endoscópicas. O estudo demonstrou que existe uma correlação estatística extremamente significativa entre a presença de manchas e lacteais dilatadas em cães com linfangiectasia (P <0,05). Até o momento, não há outro estudo para associar as manchas brancas observadas no exame ultrassonográfico e lacteais dilatadas reveladas após endoscopia em cães com linfangiectasia intestinal.(AU)
Assuntos
Animais , Cães , Linfangiectasia Intestinal/veterinária , Linfangiectasia Intestinal/diagnóstico por imagem , Endoscopia do Sistema Digestório/veterinária , Ultrassonografia/veterináriaRESUMO
Resumo A linfangiectasia intestinal consiste em um grupo de doenças raras caracterizadas pela dilatação dos canais linfáticos. A fisiopatologia compreende a obstrução da drenagem linfática do intestino delgado com dilatação secundária dos vasos linfáticos mucosos, submucosos ou subserosos, que distorcem a arquitetura das vilosidades e conduzem à perda de linfa para a luz intestinal, levando à má absorção. Os vasos linfáticos afetados localizam-se primariamente no intestino delgado, que é atingido em extensão variável. A sua etiologia é ainda desconhecida. O relato a seguir apresenta um raro caso de linfangiectasia intestinal em paciente adulto.
Abstract Intestinal lymphangiectasia is a group of rare diseases characterized by dilation of lymphatic channels. Its pathophysiology comprises obstruction of small bowel lymphatic drainage with secondary dilation of mucosal, submucosal, or subserous lymphatic vessels, distorting villous architecture and causing loss of lymph into the intestinal lumen, leading to malabsorption. The affected lymphatic vessels are primarily located in the small intestine, which is affected to a varying extent. Its etiology is still unknown. The following report presents a rare case of intestinal lymphangiectasia in an adult patient.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Vasos Linfáticos/fisiopatologia , Intestino Delgado/fisiopatologia , Linfangiectasia Intestinal/fisiopatologia , Doenças Raras , Linfangiectasia Intestinal/diagnóstico , Linfangiectasia Intestinal/dietoterapiaRESUMO
Introducción: La linfangiectasia renal es una afección infrecuente en la que existe dilatación de los vasos linfáticos renales. Usualmente es bilateral y de buen pronóstico. Objetivos: Presentar un caso de linfangiectasia renal bilateral, sus características clínicas y aspectos del diagnóstico imaginológico. Caso clínico: Paciente femenina de 59 años de edad, hipertensa controlada, que asistió a la consulta externa de urología por dolor lumbar bilateral, de moderada intensidad y coloración rojiza de la orina, ambos de forma intermitente. El examen físico general y regional fue negativo. Se confirmó microhematuria en el examen general de la orina. Los estudios de la analítica sanguínea fueron normales. El ultrasonido renal reportó pielocaliectasia bilateral moderada y quistes parapiélicos, bilaterales, a predominio izquierdo. La tomografía axial computarizada renal contrastada, reveló la presencia de formaciones hipodensas renales bilaterales, de aspecto quístico parapiélicas y en el seno renal, compatibles con linfangiectasia bilateral. La paciente ha evolucionado favorablemente. Conclusiones: La linfangiectasia renal se debe tener en cuenta en el diagnóstico deferencial de la enfermedad quística renal. Para el diagnóstico imaginológico de certeza es esencial la tomografía axial computarizada renal contrastada(AU)
Introduction: The renal linfangiectasia is an uncommon, in which dilatation of the lymphatic renal vessels exists. It is usually bilateral and of good presage. Objectives: To present a case of renal bilateral lymphangiectasia, their clinical characteristics and aspects of the imaginologic diagnosis. Clinical case: Patient feminine of 59 years of age, with controlled hypertension that attended the external consultation of Urology for lumbar bilateral pain, of moderate intensity, and reddish coloration of the urine, both in an intermittent way. The general and regional physical exam was negative. Microhematuria was confirmed in the general exam of the urine. The sanguine studies of the analytic one were all normal ones. The renal ultrasound reported bilateral moderate pielocaliectasia and parapielic cysts, with left prevalence. The renal contrasted computed tomography revealed the presence of bilateral renal hipodenses formations, of aspect cystic parapielic and in the renal sinus, and compatible with bilateral linfangiectasia. The patient has evolved favorably. Conclusions: The renal linfangiectasia it should be kept in mind in the deferential diagnosis of the cystic renal illness. For the imaginologic diagnostic of certainty it is essential the renal contrasted computed tomography(AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Anormalidades Congênitas , Tomografia Computadorizada por Raios X/métodos , Rim/anormalidades , Linfangiectasia/diagnóstico por imagem , Linfangioma/diagnósticoRESUMO
Presentamos el caso de lactante de 6 meses de edad referido por aumento progresivo de perímetro abdominal. A la valoración con datos de ascitis. La paracentesis diagnóstica muestra líquido ascítico quiloso. El diagnóstico de linfangiectasia se realizó a través de endoscopia digestiva alta, con biopsia intestinal
We present the case of 6-month-old infants referred for ascites. The paracentesis shows uid of chilosas characteristics. The diagnosis of lymphangiectasia was made through upper digestive endoscopy, with intestinal biopsy
RESUMO
La linfangiectasia intestinal primaria es una entidad clínica poco común de etiología desconocida. La edad típica de presentación de esta enfermedad es durante los 3 primeros años de vida, pero también se han reportado casos en adultos. Posee sintomatología variable, pero la manifestación clínica principal es el edema, puede presentarse también diarrea y pérdida de peso. La pérdida de fluido linfático en el tracto gastointestinal conlleva también a hipoproteinemia y linfopenia. El diagnóstico se establece en base a la clínica, a los estudios de laboratorio, al estudio endoscópico y se confirma con la evaluación histológica de la biopsia realizada. El manejo se da mediante una dieta rica en proteínas, baja en grasas y triglicéridos de cadena media. A continuación, se presenta el caso de un paciente varón de 1 año de edad que presenta edema generalizado, con predominio de miembros inferiores, y diarrea. Los exámenes de laboratorio muestran la presencia de hipoproteinemia marcada. Posteriormente, se realiza una endoscopía digestiva alta y una biopsia duodenal. El estudio histológico confirma el diagnóstico de linfangiectasia intestinal primaria. El paciente recibe el tratamiento establecido para esta enfermedad y, finalmente es dado de alta.
Primary intestinal lymphangiectasia is a rare clinical condition of unknown etiology. The common age of presentation is during the first 3 years of life, but cases in adults have also been reported. It has a variable symptomatology, but the main clinical manifestation is edema, also diarrhea and weight loss can occur. The loss of lymph fluid into the gastrointestinal tract also leads to hypoproteinemia and lymphopenia. Diagnosis is based on clinical manifestations, laboratory and endoscopic findings, and is confirmed on histopathological examination of biopsy. The main treatment is a protein rich, low in fat and medium chain triglyceride diet. We present the case of a 1-year-old male patient who presents with generalized edema, predominantly in lower limbs, and diarrhea. Laboratory findings show the presence of marked hypoproteinemia. Then an endoscopy and a duodenal biopsy are performed, and the histopathological study confirms the diagnosis of primary intestinal lymphangiectasia. The patient is treated and after a satisfactory evolution, is discharged.
Assuntos
Humanos , Lactente , Masculino , Linfangiectasia Intestinal/diagnóstico , Peru/epidemiologia , Venezuela/etnologia , Gorduras na Dieta/uso terapêutico , Proteínas Alimentares/uso terapêutico , Corticosteroides/uso terapêutico , Terapia Combinada , Diarreia/etiologia , Diuréticos/uso terapêutico , Edema/etiologia , Hemodinâmica , Hipoproteinemia/dietoterapia , Hipoproteinemia/etiologia , Linfangiectasia Intestinal/complicações , Linfangiectasia Intestinal/terapia , Linfangiectasia Intestinal/epidemiologiaRESUMO
La linfangiectasia pulmonar congénita (LPC) unilateral es una enfermedad extremadamente rara de los vasos linfáticos pulmonares. OBJETIVO: presentar un caso de LPC en un recién nacido prematuro. CASO CLÍNICO: recién nacido masculino, prematuro, con insuficiencia respiratoria severa a las 2 horas de vida extrauterina, recibió tratamiento con surfactante exógeno, catecolaminas y ventilación de alta frecuencia oscilatoria (VAFO). La tomografía axial computarizada (TAC) de tórax reveló bulas y atrapamiento de aire de pulmón izquierdo, el estudio histopatológico describió dilatación quística de los canales linfáticos broncoalveolares. Se diagnosticó LPC unilateral secundaria. La evolución clínica hasta los 19 meses de edad fue normal y la TAC de tórax mostró escasas bulas enfisematosas. CONCLUSIONES: La LPC debe ser uno de los diagnósticos diferenciales en neonatos con dificultad respiratoria inexplicable. El pronóstico dependerá del tipo de LPC y de la afectación pulmonar.
Unilateral congenital pulmonary lymphangiectasia (CPL) is an extremely rare disease of the pulmo nary lymphatic vessels. OBJECTIVE: to present a case of CPL in a premature newborn. CLINICAL CASE: premature male newborn with severe respiratory failure at 2 hours of extrauterine life was treated with exogenous surfactant, catecholamines and high frequency oscillatory ventilation (HFOV). Chest computed tomography (CT) scan showed bullae and air trapping of the left lung; the histopathological study showed cystic dilation of the bronchoalveolar lymphatic channels. The diagnosis of secondary unilateral CPL was made. The clinical course up to 19 months of age was normal and the chest CT scan showed few emphysematous bullae. CONCLUSIONS: CPL must be one of the differential diagnoses in neonates with unexplained respiratory distress. The prognosis will depend on the type of CPL and lung involvement.
Assuntos
Humanos , Masculino , Recém-Nascido , Doenças do Prematuro/diagnóstico , Pneumopatias/congênito , Linfangiectasia/congênito , Recém-Nascido Prematuro , Pneumopatias/diagnóstico , Linfangiectasia/diagnósticoRESUMO
La linfangiectasia intestinal primaria en una patología infrecuente causada por la malformación de los conductos linfáticos intestinales. Normalmente se diagnostica antes de los 3 años de edad, pero puede aparecer en población adulta. Los síntomas más frecuentemente encontrados son la presencia de anasarca y dolor abdominal acompañado de malnutrición. El tratamiento es sintomático y se basa en la sustitución dietética de los triglicéridos de cadena larga por triglicéridos de cadena mediana con aumento del aporte proteico. En este trabajo se reporta el caso de una paciente femenina de 22 años de edad la cual presenta manifestación clínicas, imaginológicas y anatomopatológicas que permiten realizar el diagnóstico de una linfangiectasia intestinal primaria, caso extremadamente infrecuente y sobre todo a esta edad(AU)
Primary intestinal lymphangiectasia in an uncommon pathology caused by malformation of the intestinal lymphatic ducts. It is usually diagnosed before 3 years of age, but may appear in the adult population. The most frequent symptoms are the presence of anasarca and abdominal pain accompanied by malnutrition. The treatment is symptomatic and is based on the dietary substitution of long chain triglycerides by medium chain triglycerides with increased protein intake. This paper reports the case of a female patient of 22 years of age who presents clinical, imaging and anatomopathological manifestations that allow the diagnosis of primary intestinal lymphangiectasia, an extremely rare case, especially at this age(AU)
Assuntos
Humanos , Feminino , Adulto , Espironolactona/uso terapêutico , Enteroscopia de Duplo Balão/métodos , Furosemida/uso terapêutico , Linfangiectasia Intestinal/diagnóstico por imagemRESUMO
BACKGROUND: Primary intestinal lymphangiectasia is a rare congenital disease described by Waldmann in 1961 that is a consequence of obstruction of the lymphatic drainage of the small bowel with secondary lymph vessel dilation. This distorts the architecture of the villi and causes a leakage of lymph into the intestinal lumen, resulting in protein-losing enteropathy and malabsorption. AIM: To describe the clinical, biochemical, radiologic, endoscopic, and histologic characteristics in children with primary intestinal lymphangiectasia. METHOD: A retrospective observational, descriptive, cross-sectional study was conducted that reviewed the case records of children diagnosed with primary intestinal lymphangiectasia that were seen at the Department of Gastroenterology and Nutrition of the Instituto Nacional de Pediatría within the time frame of January 1, 1992 to September 30, 2012. RESULTS: Four patients were found that presented with primary intestinal lymphangiectasia. Three of them had been diagnosed before 3 years of age. All the patients presented with chronic diarrhea, edema, lymphopenia, hypocalcemia, and hypogammaglobulinemia, and 3 patients presented with hypocholesterolemia. Bowel transit time, endoscopy, and intestinal biopsies were characteristic of this pathology. CONCLUSIONS: Intestinal lymphangiectasia should be suspected when there is a clinical picture of chronic diarrhea and protein-losing enteropathy accompanied with edema at any level, as well as hypoalbuminemia, hypocalcemia, lymphopenia, hypogammaglobulinemia, and hypocholesterolemia, which are the main biochemical findings of this pathology. All children presenting with intestinal lymphangiectasia should undergo an upper gastrointestinal series with bowel transit time and endoscopy with biopsies taken at the level of the duodenum. Treatment includes diet and the periodic administration of albumin and gamma globulin.