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A 53-year-old man presented with abdominal symptoms and a fever for 6 months and ascites and lower body edema for 2 months before visiting our clinic. Heart failure, renal failure, inferior vena cava or portal vein obstruction, cirrhosis, and malignancy were suspected, but none were present. We also suspected protein-leakage gastroenteropathy based on the elevated alpha-1 antitrypsin clearance (224 mL/day). Based on the double-balloon endoscopy findings, we diagnosed the patient with primary intestinal lymphangiectasia. Since the patient's ascites were not satisfactorily controlled medically, a Denver peritoneovenous shunt was placed. As a result, the ascites volume was successfully controlled over an extended period.

Primary lymphoedema is a hereditary genetic disorder of the lymphatic system. These genetic disorders can result in malformation or dysfunction of the lymphatic system, which leads to an accumulation of fluid in the tissue and, thus to the formation of oedema. The most common form is peripheral lymphoedema of the lower limbs, but systemic manifestations such as intestinal lymphangiectasia, ascites, chylothorax or hydrops fetalis may also occur. The clinical presentation and the degree of lymphoedema varies depending on the causative gene and the specific gene alteration. Primary lymphoedema is divided into five categories: (1) disorders with somatic mosaicism and segmental growth abnormality, (2a) syndromal disorders, (2b) disorders with systemic involvement, (2c) congenital lymphoedema and (2d) disorders that occur after the first year of life (late onset lymphoedema). Targeted genetic diagnosis is based on the patient's clinical presentation and classification into one of the five categories. In general, the diagnosis usually starts with basic diagnostics, which include cytogenetic and molecular genetic testing. Subsequently, a molecular genetic diagnosis is made by performing single-gene analyses, gene panel examinations, exome sequencing or whole genome sequencing. This allows the identification of genetic variants or mutations that are considered to be causative for the presenting symptoms. Combined with human genetic counselling, the genetic diagnosis allows for conclusions about inheritance, the risk of recurrence and potential concomitant symptoms. In many cases, only this approach allows the definite form of primary lymphoedema to be described., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Background: Intestinal lymphangiectasia (IL) is a rare disease characterized by dilation of lymphatic vessels and leakage of lymphatic fluids into the intestinal lumen, causing depletion of lymphocytes, protein, lipids, fat-soluble vitamins, and electrolytes. Hypomagnesemia can occur in IL patients but is seldom discussed., Case Presentation: A 30-year-old Tibetan woman who had chronic diarrhea, edema, tetany, and tingling was diagnosed with IL. Prominent hypomagnesemia was noticed. She was treated with a medium-chain triglyceride (MCT) diet and nutrient supplementation with satisfactory results. We also present a systematic review of hypomagnesemia in IL cases from the published literature., Conclusions: Hypomagnesemia may be an overlooked complication of IL, thus monitoring serum magnesium concentrations in IL patients is crucial., (© 2022. The Author(s).)

Background: intestinal lymphangiectasia is an unusual cause of protein-losing enteropathy due to either congenital malformation or obstruction of the intestinal lymphatics. However, few reports have investigated the use of video capsule endoscopy in children with intestinal lymphangiectasia. This study was performed to evaluate the diagnostic value of video capsule endoscopy for pediatric intestinal lymphangiectasia., Methods: in this retrospective study, all patients who underwent video capsule endoscopy between January 2014 and July 2020 were included. Clinical information and video capsule endoscopy data were analyzed., Results: twelve children were enrolled, 7 males and 5 females, with an age at disease onset of 4.5 (range: 3.2-9.3) years and a disease duration of 12.0 (range: 1.3-30.0) months. The most common symptoms were hypoproteinemia (10, 83.3 %), diarrhea (7, 58.3 %), edema (6, 50.0 %), and abdominal pain (3, 25.0 %). Eight patients had low lymphocyte counts, whereas 10 had reduced serum albumin levels (23.2 ± 5.8 g/L). Video capsule endoscopy revealed an overall white snowy appearance due to the presence of whitish, swollen villi in all patients. Regarding the macroscopic lesions of lymphangiectasia, 7 cases involved the entire small bowel from the duodenum to the ileocecal valve, while 5 cases involved part of the small bowel. All patients were treated with medium-chain triglyceride diets, and albumin infusions were administered to 10 patients; sirolimus treatment was administered to 3 patients. At the last follow-up, 5 patients still had hypoalbuminemia and one patient had died of intestinal lymphoma., Conclusion: video capsule endoscopy is useful for the diagnosis of intestinal lymphangiectasia and should be applied as a valuable and less invasive examination to confirm or establish a diagnosis.

Background and Objectives: Primary Intestinal Lymphangiectasia (PIL) is a rare congenital and digestive disease, which could present through a broad spectrum of clinical manifestations, diagnostic and treatment management. The aim of this study was to introduce the diagnosis and nutrition treatment of children with PIL through the twelve years of experience., Methods and Study Design: The patients diagnosed with PIL admitted to the Department of Gastroenterology and Nutrition in Xinhua Hospital from June 2006 to September 2017 were included in the study., Results: Ten patients were found to have PIL, and 5 of them were male. The mean age was 66 months at the time of diagnosis and 11 months at onset. The main clinical manifestations were diarrhea, edemas and abdominal distention. Marked dilatation of the intestinal lymphatic vessels was the characteristic of the endoscopic. All the patients presented with hypoproteinemia and hypoimmunoglobulinia. Six of them were treated with parenteral nutrition, and 9 of them were treated with a low-long-chain triglycerides (LCT), high-protein diet supplemented with medium-chain triglycerides (MCT). The clinical symptoms of the patients have improved after the MCT diet therapy., Conclusions: PIL should be considered first when there are clinical manifestations of chronic diarrhea, edema and abdominal distention, and biochemical results indicated the hypoproteinemia and hypoimmunoglobulinia, and the general treatment is invalid. Gastroscopy and E-colonoscopy with biopsies are the preferred method of diagnosis. Diet intervention (MCT diet) is the cornerstone and longtime medical treatment, which can improve the nutritional status and promote the survival quality of patients with PIL.

Background: Primary intestinal lymphangiectasia is an exceedingly rare disorder. Epidemiology is unknown. It usually presents with lower extremity swelling, diarrhea, ascites, and protein-losing enteropathy. Since the pathogenesis of edema is usually due to hypoalbuminemia; both extremities are typically involved. The edema can rarely be due to abnormal lymphatic circulation, causing lymphedema, which usually involves both extremities as well. Diagnosis is made by the constellation of clinical, biochemical, endoscopic, and histological findings. Treatment involves dietary modification, to reduce lymphatic dilation in response to dietary fat. Other pharmacologic (e.g., octreotide) and replacement measures may be indicated as well. The most serious long-term complication is intestinal lymphoma. Herein is a case of Primary intestinal lymphangiectasia presenting with unilateral lower limb swelling., Case Presentation: A 4-year-old boy presents with left foot swelling since the age of 4 months, in addition to intermittent diarrhea, and abdominal swelling. The foot swelling had been evaluated by different health care professionals in the past, and was mislabeled as either cellulitis, or congenital hemihyperplasia. Physical examination revealed mild ascites, and a non-pitting foot edema with a positive Stemmer's sign (lymphedema). Blood work revealed hypoalbuminemia (albumin 2 g/dl), and hypogammaglobulinemia. Endoscopy showed dilated lacteals throughout the duodenum. Histopathologic examination revealed massively dilated lamina propria lymphatics in the duodenal biopsies. The patient was diagnosed with primary intestinal lymphangiectasia. He was treated with high-protein and low-fat diet, and supplemental formula high in medium chain triglycerides. On follow-up, the patient's diarrhea completely resolved, and his ascites and edema improved significantly., Conclusions: The presence of unilateral lower limb edema should not preclude the diagnosis of systemic disorders, and a high index of suspicion is required in atypical presentations. A good knowledge about Primary intestinal lymphangiectasia manifestations, and physical examination skills to differentiate edema or lymphedema from tissue overgrowth can significantly aid in the diagnosis.

This case report describes a young man with a history of lymphoedema and long-standing gastrointestinal symptoms since childhood. After undergoing extensive investigations, he was diagnosed with primary intestinal lymphangiectasia (IL). The patient's condition was refractory to conventional medium-chain triglyceride diet but responded well to treatment with subcutaneous octreotide. We have shown octreotide to be effective in improving the pathological effects of primary IL, associated with improved clinical well-being and serology, but it is not a curative therapy., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Intestinal lymphangiectasia is a rare disease. Thus, prospective studies are impossible, and therapy is still controversial. Several medicines are suggested for treatment but there are no existing indications for drug choice and treatment guidelines. We aimed to introduce the action mechanism of each drug and treatment overview in a single-center experience and a review of the literature on second-line therapy for primary intestinal lymphangiectasia., Method: Children under 18 years old diagnosed with intestinal lymphangiectasia from June 2000 to June 2020 were included and retrospectively reviewed in the study. Capsule endoscopy, MR lymphangiography, or whole-body MRI for investigating the extent of abnormal lymphatic vessels in addition to endoscopy and biopsy were conducted. The individual treatment approaches depended upon the lymphangiectasis locations involved., Results: Only one patient showed a response to dietary therapy. One patient was successfully cured after two therapeutic lymphatic embolization. Octreotide was tried for two patients who had extensive lymphangiectasis. Lymphangiectasis recurred when octreotide was used for 3 months in one patient, and there was no effect in the other patient. Sirolimus was tried for four patients. Two of them had abnormal lymphatic lesions only in the intestine, and the others had extensive lymphangiectasis. The former group showed clinical improvement after 3-4 months of sirolimus treatment, whereas the latter group showed clinical improvement only after 1 month of sirolimus treatment., Conclusion: Surgery or embolization is a potential therapeutic option for patients with focal abnormal lymphatic lesions. Octreotide is not an optimal choice for patients with extensive lymphangiectasis. Sirolimus is an effective and safe drug and can be the first drug of choice for patients with extensive lymphangiectasis.

Primary intestinal lymphangiectasia is an uncommon condition that usually presents early in childhood. This incurable condition is consequent to underlying lymphatic abnormalities that lead to loss of lymphatic contents into the intestinal lumen. This article outlines an approach to the assessment of children presenting with characteristic features and consideration of other conditions that could lead to enteric protein loss. An overview of the management of primary intestinal lymphangiectasia is outlined., (© 2020 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

A 24-year-old woman with a medical history of chronic lower extremity oedema, abdominal pain, diarrhoea and recurrent pulmonary infections presented with sepsis from right lower extremity cellulitis. Blood cultures grew Morganella morganii Laboratory evaluation revealed lymphopaenia, hypogammaglobulinaemia, a low CD4+ T-cell count and nutritional deficiencies resulting from protein-losing enteropathy (PLE). CT showed small bowel wall thickening in the jejunum and ileum. Primary intestinal lymphangiectasia (PIL) was the likely diagnosis that explained her PLE and immunodeficiencies. Video capsule endoscopy is an important diagnostic tool for distal small bowel pathology and confirmed patchy areas of lymphangiectasia of the jejunum and ileum. Secondary causes of lymphangiectasia were ruled out. Clinically significant immunodeficiency from PIL has not been frequently documented, and this case adds to the literature of rare infections associated with PIL. Treatment with intravenous antibiotics resolved her septicaemia, while dietary modifications improved her oedema, abdominal pain and diarrhoea., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Rational: Intestinal lymphangiectasia (IL) is a rare disease characterized by dilatation and rupture of intestinal lymphatic channels leading to protein-losing enteropathy. IL is classified as primary and secondary types., Patient Concerns: A 3-month-old girl born at term from vaginal delivery with an APGAR score of 10/10 and birth weight of 4.310 g (>97° percentile) was admitted to our hospital because of increasing abdominal tenderness and diarrhea. At first examination, she presented an abdominal circumference of 60 cm, edema of the lower extremities and vulva, and facial dysmorphisms (hypertelorism, flat nasal bridge, flat mid-face)., Diagnosis: Once admitted, ultrasonography showed a large amount of ascites, while blood laboratory investigations revealed severe hypoproteinemia, hypoalbuminemia and hypogammaglobulinemia. Lymphoscintigraphy with 99m-Tc-nanocolloid demonstrated abnormal leakage of the tracer in the abdomen as evidence of IL. To detect a possible secondary, exams were performed and demonstrated positive antibody titres for CMV-IgM and IgG in blood and CMV-DNA positivity in blood, urine, saliva, maternal milk, and gastric and duodenal biopsies. Genetic investigations identified the genomic variant c.472C>T of the CCBE1 gene, coding for a protein variant (p.Arg158Cys), in homozygosity., Interventions: Total parenteral nutrition was started and continued for a total of 18 days, then gradually bridged by enteral nutrition with a special formula. In addition, antiviral therapy for CMV infection was added first with intravenous ganciclovir for 14 days, resulting in the disappearance of blood viral load after 7 days of therapy and then with valganciclovir per os for another 30 days., Outcomes: The clinical course of the child gradually improved. A few days after starting treatments, lower extremities and vulvar edema disappeared, and abdominal circumference gradually decreased to a stable value of 38 cm, without any ultrasonographic signs of ascites left. Moreover, serum albumin and IgG rose to normal values after 3 months (4.3 g/dL and 501 mg/dL, respectively)., Lessons: This case suggests that in presence of IL both primary and secondary causes should be evaluated. On the other hand, genetic diagnosis is crucial not only for diagnosis but also for prognosis in HS. Life expectancy and quality could deeply vary among different gene mutations and protein variants of the same gene. Further studies and case reports are needed to better understand the clinical meaning of these genetic results and the role of CMV as trigger of IL.

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

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., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Intussusception in adolescents is usually idiopathic in nature. A 17-year-old woman with diffuse large B cell lymphoma presented with signs of intestinal obstruction after initiation of induction chemotherapy. On evaluation, the patient was diagnosed to have ileoileal intussusception with intestinal lymphangiectasia as the lead point. Intestinal lymphangiectasia as a rare cause for intussusception and its relationship with lymphoma is discussed in this case report.

Rationale and Objectives: To investigate the clinical feasibility of CT lymphangiography (CTL) in primary intestinal lymphangiectasia (PIL) by comparison with intraoperative enteroscopy (IOE) during exploratory laparotomy., Materials and Methods: Eleven PIL patients (F/M, two/nine, age range 10-37 years) were recruited in this study, and they were performed IOE during exploratory laparotomy for suspected serious lymphatic-intestinal leakages. All the patients were performed CTL before surgery, and the imaging data were reviewed by two radiologists separately. CTL assessments included intestinal lesions, edematous lesions, intestinal and mesenteric lymphangiectasia, lymphaticabdominal leakages, lymph fluid reflux, lymphangioma and abnormal lymphatics in other area. The intestinal lymphangiectasia and lymphaticintestinal leakages were confirmed by histology and IOE., Results: For CTL, (1) nine intestinal wall thickening; (2) eight ascites, complicated with four pleural effusions, (3) eight intestinal and mesenteric lymphangiectasia, (4) six lymph fluid reflux (5) one lymphatic-abdominal leakage, (6) two lymphangioma. While for IOE, intestinal lymphangiectasia has been confirmed in all patients, including five segemental and six diffusive lesions in intestinal mucosa. Besides, one lymphatic-intestinal fistula, one lymphatic-abdominal leakage was confirmed. Compared to IOE and histology, the accuracy of CTL was 72.7% in detecting intestinal lymphangiectasia., Conclusion: Compared to IOE, CTL demonstrates feasibility in detection of intestinal lymphangiectasia and other abnormalities in whole lymphatic circulation for PIL. Combination of CTL with IOE accommodates guidance for preoperative evaluation and therapeutic management for PIL., (Copyright © 2018 Academic Radiology. Published by Elsevier Inc. All rights reserved.)

A 59-year-old woman was diagnosed with primary intestinal lymphangiectasia (PIL), with characteristic findings on capsule enteroscopy and confirmation by histopathological examination of biopsy specimens. We viewed the abnormal jejunal mucosa using a newly developed magnifying single-balloon enteroscope (SIF-Y0007). Conventional observation showed leakage of chyle. However, using this new scope, we could see scattered white villi, representing dilated lymphatic vessels within the intestinal villi protruding from the dilated submucosal lymphoid vessels (D2-40 positive) within an edematous jejunal lesion. This report is the first to describe the white villi in a patient with PIL observed clearly using a newly developed magnifying enteroscope. Technological advancements and the accumulation of reported pathological data would further improve our understanding of the pathophysiological aspects of this disease entity, even in the jejunum., (© 2018 S. Karger AG, Basel.)

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.

The Waldmann's disease is a primitive intestinal lymphangectasia. This exsudative enteropathy initiates a protein leakage by the digestive tract. Clinically, this syndrome is characterised by oedemas and biologically by hypoprotidemia and loss of lymphocytes T CD4+, which increases a risk for infections. Here, we describe a patient's case for whom the protein loss was aggravated by a nephrotic syndrome.

Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. It is an autosomal recessive condition caused by biallelic mutations in CCBE1 (collagen- and calcium-binding epidermal growth factor domain-containing protein 1) (HKLLS1; OMIM 235510) or FAT4 (HKLLS2; OMIM 616006). CCBE1 acts via ADAMTS3 (a disintegrin and metalloprotease with thrombospondin motifs-3 protease) to enhance vascular endothelial growth factor C signaling. There is report of one family supporting mutations in ADAMTS3 as causative for the phenotype labeled as HKLLS3. Here, we report an additional case of HKLLS that appears to be associated with homozygous nonsense mutation of ADAMTS3., (© 2018 Wiley Periodicals, Inc.)

Background: Clinical presentations of intestinal lymphangiectasia include pitting edema, chylous ascites, pleural effusion, diarrhea, malabsorption and intestinal obstruction., Case Characteristics: An 8-year-old male child presented to the emergency department with clinical features of peritonitis, raising suspicion of appendicular or small bowel perforation., Intervention/outcome: Diagnosis of chylous ascites with primary intestinal lymphangiectasia made on laparotomy., Message: Acute peritonitis may be a presentation of primary intestinal lymphangiectasia and chylous ascites.

Primary intestinal lymphangiectasia (PIL), Waldmann's disease, is a rare disorder of unknown etiology characterized by dilated intestinal lacteals leading to lymph leakage into the small-bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. The main symptom is bilateral lower limb edema. Edema may be moderate to severe including pleural effusion, pericarditis or ascites. Protein-losing enteropathy is confirmed by the elevated 24-h stool α1-antitrypsin clearance and diagnosis by endoscopic observation of intestinal lymphangiectasia with the corresponding histology of biopsies. Videocapsule endoscopy may be useful when endoscopic findings are not contributive. Several B-cell lymphomas of the gastrointestinal tract or with extra-intestinal localizations were reported in PIL patients. A long-term strictly low-fat diet associated with medium-chain triglyceride and liposoluble vitamin supplementation is the cornerstone of PIL medical management. Octreotide, a somatostatin analog, have been proposed with an inconsistent efficacy in association with diet. Surgical small-bowel resection is useful in the rare cases with segmental and localized intestinal lymphangiectasia. A prolonged clinical and biological follow-up is recommended., (Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)

Thrombus formation is not uncommon in longstanding intracardiac catheters, but formation of a thrombus at the tip of a Peritnoeo-venous-atrial shunt, causing obstruction of the tricuspid valve, is a rare complication and frequently unrecognized. A large intracardiac thrombus causing valve obstruction requires surgical removal with the support of cardiopulmonary bypass which is associated with significant morbidity. We successfully removed a thrombus attached to the tip of peritoneovenous shunt without cardiopulmonary bypass in a 25-year-old man.

Intestinal lymphangiectasia is a very rare pathology, characterized by the presence of enlarged lymphatic vessels in all layers of the intestinal wall and in the mesentery. As a result, "lymphatic lakes" are formed, through which lymph exudates into the lumen of the intestine. The main manifestation is hypoproteinemic edema. Diagnosis of the disease is based on laboratory-instrumental methods of investigation, including by determining in the stool α-1 antitrypsin as a screening test. Treatment includes: a diet rich in calcium, trace elements, be sure to use medicinal foods enriched with medium chain triglycerides, substitution and symptomatic therapy.

Objective: To analyze the clinical manifestations, diagnosis, treatment and prognosis of intestinal lymphangiectasia (IL) in children in order to improve the skills of diagnosis and treatment of IL. Method: Clinical manifestations, laboratory findings, gastroscopic findings, histopathological examinations and lymphatic radionuclide imaging assessments were analyzed retrospectively among 47 IL patients who were hospitalized in the Gastroenterology Department of Beijing Children's Hospital Affiliated to Capital Medical University from June 2007 to December 2015. All patients were followed up by telephone. According to the various causes, the patients were divided into the primary intestinal lymphangiectasia (PIL) group and secondary IL group, and their clinical manifestations were compared by t test, Rank sum test or Chi-square test. Result: In 47 IL patients, there were 38 children (81%) younger than 3 years old. There were 43 PIL patients (91%) and 4 secondary IL patients (9%). Between PIL and secondary IL, there were statistical differences in serum albumin ( t=- 3.950, P< 0.005) , globulin( t=- 2.850, P= 0.007), age of onset( U =27.000, P= 0.024), age at diagnosis( U =29.000, P= 0.030) and course of disease( U =26.500, P= 0.023), whereas there were no statistical differences in lymphocyte count, IgG, lymphatic radionuclide imaging, histopathology and gender(all P> 0.05). Edema (44 cases, 94%), diarrhea (42 cases, 89%), accompanied with infection (35 cases, 74%) and ascites (30 cases, 64%) were the main clinical manifestations. In 47 IL patients, 45 patients were done gastroscopy and histopathological examinations, and there were 31 patients' histopathological examinations(69%) were positive. Forty patients were done lymphatic radionuclide imaging, and there was evidence of protein losing from gut via lymphatic radionuclide imaging in 39 patients(98%). Among 47 patients, 35 patients (74%) were followed up, 32 patients had good prognosis, 2 patient failed to show evidence of improvement, 1 patient died and no patient experienced a relapse till the end of the follow-up. In 35 patients, 28 patients were treated with medium chain triglycerides (MCT) dietary therapy, 26 patients showed improvement in symptoms, and 2 patients had no improvement. Among 35 patients with follow-up, there were 6 patients received surgical treatment, and their symptoms were improved. Conclusion: PIL are the majority of IL in children younger than 3 years old. The main clinical manifestations are edema, diarrhea, accompanied with infection and ascites. For the patients without the evidence of lymphangiectasia from duodenum histopathological examination, further consideration of lymphatic radionuclide imaging, clinical manifestations, and laboratory studies are needed to make a final diagnosis. MCT dietary therapy is the cornerstone of IL medical management.

Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system. Common genetic conditions associated with lymphoedema include Turner syndrome and Noonan syndrome; however, there are numerous others that can be classified based on their clinical presentation and associated features. Herein we discuss how to diagnose and classify the known primary lymphoedema conditions and how best to investigate and manage this group of patients., (© Royal College of Physicians 2017. All rights reserved.)

Rationale: Intestinal lymphangiectasia (IL) is a rare enteropathy involving the expansion and rupture of intestinal lymphatic channels. Although several reports have studied cases of primary IL (PIL), this condition is very rare, and is even less commonly encountered in infants. This study aimed to investigate the nutritional therapy and effect assessment of chylous reflux disorder caused by PIL in infants., Patient Concerns: Infantile patients were enrolled in the Affiliated Beijing Shijitan Hospital of the Capital Medical University between January 2012 and March 2014. The minimum age of onset was 4 months and the maximum age of onset was 16 months, with an average age of 4.9 months., Diagnoses: All children were inpatient who had been diagnosed with chylous reflux syndrome (chylothorax and/or chylic abdomen) caused by PIL., Interventions: Retrospective analysis and individualized nutrition therapy of these cases were carried out. Finally, nutritional therapy and prognosis of PIL were assessed and summarized., Outcomes: All the children survived, showed improvement in the serum total protein, albumin, and HGB levels after nutritional therapy. After comprehensive nutritional therapy, we were able to achieve diarrhea control for all the 9 patients, and after treatment, the children passed soft, yellow stools 1 to 2 times/d. After treatment, the height and weight of all patients increased to within the normal ranges of the World Health Organization standard chart. The mean serum albumin level reached 41.3 g/L. All nutrition-related indicators were found to have significant improvement compared with the baseline levels., Lessons: The results revealed that nutritional therapy for the 9 children with PIL was effective, and it may be able to improve the clinical syndromes and symptoms of children with PIL and promote recovery., (Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.)

We report the case of a 14-year-old boy with severe protein-losing enteropathy after Fontan surgery that led to lymphangiectasia, which caused gastrointestinal haemorrhage and required invasive treatment to stop the bleeding. Through this case and a review of the literature on protein-losing enteropathy after Fontan surgery, we highlight a rare and serious presentation of the disease and the difficulties of diagnosis and management.

Protein loss via the gut can be caused by a number of gastrointestinal disorders, among which intestinal lymphangiectasia has been described to not only lead to a loss of proteins but also to a loss of lymphocytes, resembling secondary immunodeficiency. We are reporting on a 75-year-old female patient who came to our hospital because of a minor stroke. She had no history of serious infections. During the diagnostic work-up, we detected an apparent immunodeficiency syndrome associated with primary intestinal lymphangiectasia. Trying to characterize the alterations of the immune system, we not only found hypogammaglobulinemia and lymphopenia primarily affecting CD4+, and also CD8+ T cells, but also marked hypocomplementemia affecting levels of complement C4, C2, and C3. The loss of components of the immune system most likely was due to a chronic loss of immune cells and proteins via the intestinal lymphangiectasia, with levels of complement components following the pattern of protein electrophoresis. Thus, intestinal lymphangiectasia should not only be considered as a potential cause of secondary immune defects in an elderly patient, but can also be associated with additional hypocomplementemia.