Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics.

Paediatric chylous ascites in tropics is commonly caused by infections and trauma. We describe the clinical characteristics of an uncommon inherited cause of chylous ascites, Hennekam syndrome, treated by nutritional modification.

A primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation.

Primary intestinal lymphangiectasia (Waldmann's disease) is an exudative enteropathy characterized by lymph leakage into the small bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia (particularly T-cell). The diagnosis is based on viewing the duodenal lymphangiectasia. A 20 years old female patient, treated for a primary intestinal lymphangiectasia, has consulted for anasarca. Etiological work-up reveals pleural and pericardial tuberculosis. The clinical aggravation of an enteropathy, particularly in adulthood, requires a search for a secondary etiology. Tuberculosis should be sought systematically.

[Surgical treatment of rare combination of intestinal malrotation with secondary lymphangiectasia].

The rare combination of intestinal lymphangiectasia with malrotation of the duodenum in a child of three months of life is described. Basing on the literature review only 3 similar cases were described in the world practice. The boy with protein-losing enteropathy was examined at Moscow Scientific Centre of Children's Health. The child had vomiting, diarrhea, loss in body weight, hypoproteinemia, lymphopenia. The infectious nature of the disease was excluded. It had been suggested the Waldman desease (primary intestinal lymphangiectasia). The prognosis for such disease is unfavorable. An examination of the child was continued against the backdrop of ongoing symptomatic therapy. Complete physical examination included monitoring laboratory blood tests, X-ray examination with contrast, CT-scan, gastroduodenoscopy with biopsy of the mucosa of the small intestine. Malrotation duodenum with the recurrent mid-gut volvulus with the development of secondary intestinal lymphangiectasia was diagnosed. Modern methods of examination and multidisciplinary approach made it possible to diagnose the case. Operation to eliminate fixation duodenum resulted in the recovery of the patient. At the present time the child grows and develops according to age and does not require treatment. The prognosis for this disease is regarded as favorable.

Behçet disease and protein-losing enteropathy due to intestinal lymphangiectasia.

We report an unusual case of a patient with Behçet's disease that developed protein-losing enteropathy due to intestinal lymphangiectasia.

[A complicated case study: Hennekam syndrome].

Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.

Linfangiectasia intestinal primaria como causa de hipoalbuminemia / Primary intestinal lymphangiectasia as a cause of hypoalbuminemia

La linfangiectasia intestinal primaria es una malformación congénita de los vasos linfáticos subserosos asociada a una enteropatía pierde-proteínas. La obstrucción del drenaje linfático del intestino origina una rotura de los vasos linfáticos intestinales con salida de linfa hacia la luz intestinal, lo que causa edemas por hipoproteinemia, inmunodeficiencia por hipogammaglobulinemia, linfopenia y esteatorrea. Presentamos el caso clínico de un lactante de 6 meses con infecciones graves, hipoalbuminemia, edemas y esteatorrea, en el que se confirmó el diagnóstico de linfangiectasia intestinal por biopsia intestinal y se descartó una causa desencadenante mediante otras pruebas complementarias (AU)

Primary intestinal lymphangiectasia is a congenital malformation of the subserosal lymph vessels associated to a protein-losing enteropathy. The obstruction of the lymphatic drainage of the intestine leads to a rupture of the intestinal lymph vessels in which the lymph spreads to the intestinal lumen, which causes hypoproteinemia-related edemas, hypogammaglobulinemia-related immunodeficiency, lymphocytopenia and steatorrhea. We present a clinical case of a lactating 6-months old infant with severe infections, hypoalbuminemia, edemas and steatorrhea in which an intestinal biopsy confirmed the diagnosis of intestinal lymphangiectasia and a triggering cause was ruled out with other complementary tests (AU)

Malrotation of the intestine and chronic volvulus as a cause of protein-losing enteropathy in infancy.

Protein-losing enteropathy in children is caused by intestinal metabolic, inflammatory, or infectious processes, or by lymphatic obstruction (intestinal lymphangiectasia). In this report, a 17-month-old child is presented with protein-losing enteropathy due to intestinal malrotation and chronic midgut volvulus causing lymphatic obstruction and spillage of lymph in the intestine and the peritoneum. This report should alert the pediatrician that intestinal malrotation should be added to the wide list of possible causes of protein-losing enteropathy in children.

Intestinal lymphangiectasia: an undescribed cause of malabsorption and incomplete immunological recovery in HIV-infected patients

Background Although paradoxical virological and immunological response after HAART has been well studied, intestinal lymphangiectasia (IL) in HIV-1 infected patients has not previously described. Methods To describe HIV patients who developed IL. Design Clinical Case series.Patients4 patients with HIV and IL diagnosis based on clinical, endoscopic and pathological findings. Results All four cases had prior mycobacterial infections with abdominal lymph node involvement and a very low CD4 cell count nadir. They developed intestinal lymphangiectasia despite appropriate virological suppression with HAART and repeatedly negative mycobacterial cultures. Two patients were clinically symptomatic with oedemas, ascites, diarrhoea, asthenia, weight loss; but the other two were diagnosed with malabsorption as a result of laboratory findings, with hypoproteinemia and hypoalbuminemia. Three of them were diagnosed by video capsule endoscopy. Conclusions IL should be considered in HIV-1 infected patients who present with clinical or biochemical malabsorption parameters when there is no immunological recovery while on HAART (AU)

Antecedentes Aunque las respuestas paradójicas al tratamiento antirretroviral, con ausencia de respuesta inmunológica a pesar de buen control virológico, han sido extensamente estudiadas, no se ha descrito hasta ahora la presencia de linfangiectasia intestinal (LI) como causa de las mismas. Método Serie de pacientes con infección VIH que desarrollaron LI. Diseño Series de casos clínicos. Pacientes Incluye 4 pacientes que desde el año 2002 han sido diagnosticados de LI en función de los datos clínicos y los hallazgos endoscópicos y patológicos. Resultados Los cuatro pacientes habían sido diagnósticados previamente de infecciones por micobacterias con afectación de ganglios abdominales y presentaron un recuento de linfocitos CD4 nadir muy bajo. Todos desarrollaron LI a pesar de mantener una supresión virológica mantenida con el tratamiento antirretroviral y cultivos frente a micobacterias repetidamente negativos. Dos pacientes desarrollaron clínica asociada con edemas, ascitis, diarrea, astenia y pérdida de peso, pero en los otros dos se llegó al diagnóstico por presentar parámetros bioquímicos de malabsorción pierde proteínas. En tres de ellos se llegó al diagnóstico mediante videocápsula-endoscópica. Conclusión La LI debe considerarse una causa más de falta de respuesta inmunológica al tratamiento antirretroviral, debiendo considerarse principalmente en pacientes con infección VIH y otras alteraciones clínicas o analíticas sugestivas de malabsorción. Enferm Infecc Microbiol Clin. 2011;29:117-20 (AU)

Familial Mediteranean fever with protein-losing enteropathy due to constrictive pericarditis.

BACKGROUND: Constrictive pericarditis (CP) represents a rare cause of protein-losing enteropathy (PLE) resulting from intestinal lymphangiectasia (IL). In this report, we describe an 8-year-old Turkish boy with IL and PLE secondary to CP. METHODS: The boy was introduced to our clinic due to bilateral pretibial edema and swelling of the eyelids caused by hypoproteinemia. Physical examination revealed a distended right jugular vein. Laboratory investigation revealed PLE with fecal concentration of alpha-1 antitripsin of 4.87 mg/g. Histopathologic examination of random biopsies obtained from the duodenum revealed markedly dilated lymphatics compatible with IL. Constrictive pericarditis was diagnosed by tagged cine cardiac magnetic resonance imaging. RESULTS: Pericardiectomy was performed for the patient. Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. Colchicine was started after the operation. Six months after the initiation of regular colchicine therapy, echocardiography revealed disappearance of CP. CONCLUSION: This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene.

Intestinal lymphangiectasia in a patient with autoimmune polyglandular syndrome type III.

Autoimmune polyglandular syndromes (APS) comprise a wide clinical spectrum of autoimmune disorders. APS is divided into Type I, Type II, Type I and Type IV depending upon the pattern of disease combination. Ghronic diarrhoea is one of the many manifestations of APS and many aetiological factors have been suggested for it. Apart from the established aetiological factors, intestinal lymphangiectasia may be responsible for chronic diarrhea in some cases.Intestinal lymphangiectasia has been reported in Type I APS. We report a case of Type III APS with hypocalcaemia and hypothyroidism who had chronic diarrhea of long duration and was finally diagnosed to have intestinal lymphangiectasia.

Small bowel lymphangiectasia and angiodysplasia: a positive association; novel clinical marker or shared pathophysiology?

INTRODUCTION: Small bowel angiodysplasia accounts for 30 to 40% of cases of obscure gastrointestinal bleeding and is associated with significant morbidity and mortality. Identifying lesions can be difficult. Small bowel capsule endoscopy (SBCE) is a significant advance on earlier diagnostic techniques. The cause of angiodysplasia is unknown and the natural history poorly understood. Many lesions are thought to arise from a degenerative process associated with ageing, local vascular anomalies, and tissue hypoxia. Nonpathologic lymphangiectasias are commonly seen throughout the small bowel and are considered a normal finding. AIMS: To determine whether there is an association between lymphangiectasias, angiodysplasia, and atherosclerosis related conditions. METHODS: Relevant information was collected from a dedicated SBCE database. Logistic regression analysis was used to examine associations between angiodysplasia, lymphangiectasia, patient demographics, and comorbidity. RESULTS: In all, 180 patients underwent SBCE during the study period, 46 (25%) had angiodysplasia and 47 (26%) lymphangiectasia. Lymphangiectasia were seen in 24 (52%) of 46 with angiodysplasia, in 16 (19%) of 84 with obscure gastrointestinal bleeding without angiodysplasia and in 7 (14%) of 50 without gastrointestinal bleeding. Logistic regression analysis confirmed a strong positive association between angiodysplasia and lymphangiectasia; odds ratio 4.42, P<0.003. Angiodysplasias were also associated with increasing age; odds ratio 1.1. There was no correlation with any other patient characteristic. CONCLUSIONS: Lymphangiectasia are strongly associated with the presence of small intestinal angiodysplasia and may represent a useful clinical marker for this condition. Angiodysplasia are also associated with increasing age. Conditions associated with systemic atherosclerosis did not increase the risk of angiodysplasia.

[The clinical manifestations and duodenal mucosa in the patients with chronic pancreatitis and bacterial overgrowth in the small intestine].

The current study was designed to test the role of bacterial overgrowth in the small intestine in the pathogenesis of chronic pancreatitis. It was established that the bacterial overgrowth in the small intestine is noted in the majority of patients with chronic pancreatitis. We found an association between clinical manifestations of chronic pancreatitis, active duodenitis, duodenal lymphangiectasia and papillitis and bacterial overgrowth in the small intestine.

[Protein-losing enteropathy caused by a thoracic cyst]. / Proteintabende enteropati forårsaget af torakal cyste.

A case of gastrointestinal protein loss in a 58-year-old man presenting with peripheral oedema and low levels of serum proteins is presented. Measurement of gastrointestinal protein loss with 111Indium-labelled transferrin showed a protein loss of 12.5% over 96 hours. Capsule endoscopy showed villous lymphangiectasia and it was assumed that the protein loss was secondary to a large left-sided thoracic cyst obstructing the thoracic lymph drainage. The patient improved following surgical removal of the cyst.