[Congenital intestinal lymphangiectasia].

BACKGROUND: Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. CASE REPORT: A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. CONCLUSION: Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

[A case of Hennekam syndrome presenting with massive pericardial effusion]. / Hennekam sendromlu bir olguda basvuru nedeni olarak perikard efüzyonu.

Hennekam syndrome is an autosomal recessive disease characterized by intestinal lymphangiectasia accompanied by severe lymphedema of the limbs, genitalia, and face, and learning difficulties. A 38-month-old boy was admitted with breathing difficulty. He had facial abnormalities and preputial hyperplasia consistent with Hennekam syndrome. Lymphangiography showed lymphedema in the left eye and right foot. Teleradiography showed cardiomegaly and echocardiography showed massive pericardial effusion. He first underwent pericardiocentesis for the removal of pericardial effusion, but pericardial tube drainage was required upon recurrence of effusion. On the fifth day, the drain was removed because of significant decrease in the drainage.

Volvulus of a jejunal lymphatic vascular malformation presenting with bilious vomiting and the radiological appearances of malrotation.

Bile-stained vomiting in infancy is abnormal. Malrotation with small bowel volvulus is probably the most worrying of possible causes because if untreated for too long, it can result in massive bowel necrosis. As a consequence, if examination or plain radiography does not suggest another cause, an upper gastrointestinal (GI) series is often performed to exclude malrotation. If the examination is normal however and symptoms settle, should investigation stop, or how far should it be pursued? Small bowel lymphatic vascular malformations in children are extremely rare but carry a risk of obstruction, volvulus, and loss of small bowel. We present a case of a 5-year-old boy referred to our unit with bilious vomiting and the radiological findings of malrotation on upper GI series. Interestingly, a previous upper GI series undertaken during the first year of life for intermittent bilious vomiting was normal. Operative findings were of a 16-cm cystic lymphatic vascular malformation of the jejunal wall causing a 360 degrees volvulus. The mesentery was derotated, and the cyst removed with the attached section of jejunum. This case highlights the need to reinvestigate patients with bilious vomiting despite a previous normal upper GI series. The case raises the issue of whether bilious vomiting, with a normal upper GI series, should be investigated further with an abdominal ultrasound scan to identify more unusual causes such as jejunal lymphatic vascular malformations.

Hypocalcaemic seizures: sign of intestinal disease?

We describe a baby admitted with convulsions, fever, low protein level and coagulation abnormalities where congenital intestinal lymphangiectasia was confirmed by endoscopy and histology. Treatment with a low fat diet, supplemented with medium chain triglycerides (MCT), resulted in a disappearance of the symptoms and normal growth. When confronted with seizure-like attacks, electrolyte disturbances and hypo-albuminemia one should consider the possibility of protein losing enteropathy.

Ascitis quilosa congénita con linfangiectasia intestinal / Congenital chylous ascitis with intestinal lymphangiectasis

Introducción. La ascitis quilosa es una entidad infrecuente que en raras ocasiones se diagnostica prenatalmente. Aunque la linfangiectasia intestinal se menciona como una de las causas de ascitis quilosa, en la práctica es difícil llegar a objetivar esta relación. Caso clínico. Se presenta el caso de un lactante diagnosticado prenatalmente de ascitis fetal e hidrocele por ecografía. Tras el parto se aprecian edemas generalizados, ascitis e hidrocele. La paracentesis muestra líquido de características quilosas. La biopsia yeyunal encuentra dilatación de los linfáticos con atrofia de vellosidades. Se instaura dieta mediante fórmula con aporte de lípidos como triglicéridos de cadena media, con lo que se consigue desaparición paulatina de la ascitis y el hidrocele. Conclusiones. Aunque lo más habitual es que se manifieste como una enteropatía con pérdida de proteínas, la linfangiectasia intestinal primaria suele considerarse parte de un trastorno que incluye todo el sistema linfático, lo cual explicaría su presentación como ascitis quilosa congénita (AU)

Chylous ascites is an infrequent entity that is rarely diagnosed in utero. Although intestinal lymphangiectasia is mentioned as one of the causes of chylous ascites, actually it is difficult to detect this relation. Clinical case. We report a case of an infant diagnosed in utero by ultrasonography of fetal ascites and hydrocele. Physical examination after birth was significant for generalized oedema, ascites, and hydrocele. Aparacentesis yielded liquid of chylous characteristics. Duodenal biopsy showed dilated lymphatics and villous atrophy. Aformula containing most lipids as medium chain triglycerides resulted in a paulatine cessation of ascites and hydrocele. Conclusions. Primary intestinal lymphangiectasia usually manifests as a protein-losing enteropathy, but it is also considered as part of a congenital disorder of the lymphatic system as a whole. This may explain its presentation as congenital chylous ascites (AU)

[Congenital intestinal lymphangiectasia: a rare differential diagnosis in hypoproteinemia in infants]. / Kongenitale intestinale Lymphangiektasie: Eine seltene Differerenzialdiagnose hypoproteinämischer Odeme im Säuglingsalter.

BACKGROUND: Congenital intestinal lymphangiectasia is a rare disease in childhood, which may already cause protein-losing enteropathy in newborns. PATIENT, METHODS AND RESULTS: This is a case report of an infant with generalized edema and protein-losing enteropathy, in whom intestinal lymphangiectasia was diagnosed at the age of two months. Following repetitive intravenous albumin und gamma globulin infusions, the elimination of long-chain fats from the diet and the substitution with medium-chain triglycerides (MCT) led to an improvement of the protein-losing enteropathy. CONCLUSION: In newborns with low level of serum protein and edema protein-losing enteropathy caused by congenital lymphangiectasia might be considered as a differential diagnosis.

Congenital intestinal lymphangiectasia: CT demonstration in a young child.

There have been few reports of the CT findings of intestinal lymphangiectasia in adults, and no CT descriptions have been reported in the literature in children. We describe the CT appearance of a biopsy-proven case of primary small intestinal lymphangiectasia in a 3-year-old boy, and we will review the limited literature on the CT findings in this disorder in adults.

Cross-sectional imaging findings in congenital intestinal lymphangiectasia.

A 37-year-old woman presented with an 18 month history of recurrent severe abdominal pain, recurrent diarrhea since her second year of life, and mild peripheral edema. CT and more clearly MRI revealed signs of small bowel and mesenterial edema with partial tubular appearance, which correlated well with the histopathologic findings shown in duodenal biopsy. This is the first report of MR findings in congenital intestinal lymphangiectasia with correlation with other imaging modalities.

Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome.

A case of protein-losing enteropathy caused by intestinal lymphangiectasia in a preterm infant.

Intestinal lymphangiectasia is characterized by obstruction of lymph drainage from the small intestine and lacteal dilation that distorts the villus architecture. Lymphatic vessel obstruction and elevated intestinal lymphatic pressure in turn cause lymphatic leakage into the intestinal lumen, thus resulting in malabsorption and protein-losing enteropathy. Intestinal lymphangiectasia can be congenital or secondary to a disease that blocks intestinal lymph drainage. We describe the first case of intestinal lymphangiectasia in a premature infant. The infant presented with peripheral edema and low serum albumin; high fecal concentration of alpha(1)-antitrypsin documented intestinal protein loss. Endoscopy showed white opaque spots on the duodenal mucosa, which indicates dilated lacteal vessels. Histology confirmed dilated lacteals and also showed villus blunting. A formula containing a high concentration of medium chain triglycerides resulted in a rapid clinical improvement and normalization of biochemical variables. These features should alert neonatologists to the possibility of intestinal lymphangiectasia in newborns with hypoalbuminemia and peripheral edema. The intestinal tract should be examined for enteric protein losses if other causes (ie, malnutrition and protein loss from other sites) are excluded. The diagnosis rests on jejunal biopsy demonstrating dilated lymphatic lacteal vessels.

Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia.

Congenital intestinal lymphangiectasia is a rare protein-losing enteropathy that is characterized by diarrhea and peripheral edema. This report presents a 37-yr-old woman who had suffered from recurrent diarrhea and peripheral edema since her early childhood and who was admitted for severe attacks of abdominal pain. A diagnosis of intestinal lymphangiectasia was made endoscopically, histologically, and radiographically. Laparotomy revealed complete fibrotic entrapment of the small bowel, which caused partial mechanical bowel obstruction. Surgical decortication led to recovery. To the best of our knowledge, this is the first report on fibrotic entrapment of the small bowel in a patient with long lasting intestinal lymphangiectasia.

Linfangiectasia intestinal primaria: reporte de un caso

Paciente de sexo femenino quien a los 6 meses presenta diarrea persistente, asociada a edemas y falla en el crecimiento. Los paraclínicos mostraron: hipoalbuminemia, linfopenia, hipocalcemia, sudan (++) en materia fecal y carotinemia baja. La biopsia intestinal reveló linfangiectasia intestinal primaria

Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.

We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.

[Bowenoid papulosis, Bowen's disease and squamous cell carcinoma of the anus and vulva in congenital intestinal lymphangiectasis]. / Bowenoide Papulose, Morbus Bowen und Plattenepithelkarzinom von Anus und Vulva bei kongenitaler intestinaler Lymphangiektasie.

A 32-year-old woman with congenital intestinal lymphangiectasia (CIL) and warts (condylomata acuminata) was found to have bowenoid papulosis, Bowen's disease and squamous-cell carcinoma, at first in the anus, later also in the vulva. Limited surgical measures and laser vaporization with systemic and topical administration of interferon controlled the tumour development for some time. But after 7 years the squamous-cell carcinoma recurred with infiltration of the outer anogenital region. The patient then had an episode of thrombotic cerebral ischemia, which prevented a planned abdominoperineal resection with radical vulvectomy. Instead she received chemotherapy with bleomycin, mitomycin and cisplatin. But she died 8 weeks later, from tumour cachexia. Occurrence of a squamous-cell carcinoma of the anus and vulva in this young patient suggests a high oncogenic potential of the papilloma virus (HPV) infection. The latent period was probably shortened by a cellular immune deficiency as part of CIL. Treatment of the various carcinomatous manifestations should as long as possible be by local measures and interferon administration.

[Congenital intestinal lymphangiectasis]. / Congenitale intestinale lymfangiëctasie.

We discuss a newborn with congenital intestinal lymphangiectasia. Primary intestinal lymphangiectasia is a rare disease which represents a congenital disorder of mesenteric lymphatics and is associated with typical clinical signs. The diagnosis can be made on the basis of the typical histological findings in the endoscopic biopsies, the laboratory findings and the radiographic findings. Treatment is palliative by introduction of medium chain triglycerides and by restricting the dietary fat intake. Substitution therapy may be necessary. The longer-term prognosis appears to be good.

[Primary intestinal lymphangiectasis with antenatal manifestation]. / Lymphangiectasies intestinales primitives à révélation anténatale.

Antenatal ascites diagnosed by ultrasound examination was punctured and shunted in utero. Radiologic, endoscopic and histologic data led to diagnosis of primitive intestinal lymphangiectasia during the second year of life. Antenatal revelation of Waldmann's disease is extremely rare in pediatric literature.

Sonography of intestinal lymphangiectasia.

Real-time ultrasonography was used to evaluate three pediatric patients with biopsy-proven intestinal lymphangiectasia. The sonographic findings were ascites, diffuse bowel wall thickening, mesenteric edema, dilated mesenteric lymphatics, and thickened walls of the gallbladder and urinary bladder. Recognition of the sonographic pattern of intestinal lymphangiectasia is useful since ultrasonography is often the first imaging examination performed in children with abdominal disorders.