ABSTRACT
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.
Subject(s)
Humans , Male , Child , Lymphangiectasis, Intestinal/diagnostic imaging , Lysosomal Storage Diseases , Mucopolysaccharidosis III , Diet, Fat-Restricted , Diarrhea , Lymphangiectasis, Intestinal/therapyABSTRACT
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)
Subject(s)
Animals , Dogs , Lymphangiectasis, Intestinal/veterinary , Lymphangiectasis, Intestinal/diagnostic imaging , Endoscopy, Digestive System/veterinary , Ultrasonography/veterinaryABSTRACT
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)