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Zellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal-recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported.

A 12-hour-old female standardbred foal developed signs of abdominal pain, tachycardia, tachypnoea and fever associated with chylous ascites. Small intestinal obstruction was due to segmental, mid-jejunal lymphangiectasia. Post mortem examination revealed a lack of communication between afferent and efferent lymphatic vessels in the mesenteric lymphocentre, a defect which was suspected to be congenital.

Steatorrhea is seen in 18-24% of patients with autoimmune polyglandular disease (APD) type 1. The etiology and pathophysiology of the steatorrhea in this disease are unknown. We present a patient with APD type 1 and steatorrhea in whom biopsies revealed intestinal lymphangiectasia. This association has not been previously described. Intestinal lymphangiectasia may explain the steatorrhea in some patients with ADP type 1. As blind intestinal biopsies may miss areas of intestinal lymphangiectasia, endoscopically directed intestinal biopsies should be included in the evaluation of steatorrhea in APD type 1.

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.

The results from gross and microscopic examination of the stomachs of Lundehunds and examination of stomachs of control dogs from other breeds were compared. Over a 13-year period, 12 of 14 autopsied Lundehunds have been diagnosed as having intestinal lymphangiectasia. In the present study, histological examination revealed gastritis as manifested by an increase in the number of mononuclear cells infiltrating the lamina propria in all the Lundehunds. The inflammation was chronic and restricted to the fundic and body regions, except in one Lundehund where antral gastritis was also present. Computer-assisted morphometric analysis was used to quantify the increased number of mononuclear cells. Atrophy of mucosal fundic glands was prominent in most Lundehunds and mucous metaplasia was often present. Conventional morphometry revealed a significant decrease in the height of the gastric mucosa. A relative expansion in area of the basal part of the lamina propria in Lundehunds with chronic atrophic gastritis corresponded to the observed increase in mononuclear cells and stromal elements. Primary gastric carcinoma with neoplastic cells infiltrating layers of the stomach wall was found in four Lundehunds. The high incidence of gastric carcinoma and the consistent presence of gastritis in Lundehunds suffering from intestinal lymphangiectasia suggest that these changes represent features of a single pathogenetic process.

A 22-year-old female with protein losing enteropathy due to congenital intestinal lymphangiectasia who developed non-Hodgkin's lymphoma of the bone, is described. Complete remission of the lymphomatous process and disappearance of the gastrointestinal symptoms were achieved following treatment with combination chemotherapy and local irradiation.

A 26-year-old patient presented with epigastric pain of sudden onset and severe puffy swelling of both legs and forearms. An irregularly shaped nodular filling defect on selective jejunal films, severe hypoproteinemia, low IgG concentration, and lymphopenia were suggestive of primary intestinal lymphangiectasia with protein-losing enteropathy, and the patient was placed on a low-fat diet with medium-chain triglycerides. This initially improved his condition, but some weeks later he developed obstructive ileus of the small intestine. On laparotomy yellowish to whitish deposits were found to be present in some segments of the small intestine and a fist-sized mass 100 cm distal to the duodenojejunal flexure was resected without complications. Histologically, the submucosal lymphatics were dilated, and the jejunal wall showed extensive pseudocystic, intramural submucosal lymph edema with secondary bleeding and tight stenosis of the jejunal lumen. During the 14-month follow-up time after discharge the patient has been asymptomatic and working, on no treatment other than a low-fat diet with medium-chain triglycerides.

Three immunocompromised patients presented with cellulitis as the primary manifestation of cryptococcal disease. Two were recipients of cadaveric renal transplants who were receiving immunosuppressive drug therapy. The other patient had profound lymphopenia and severe hypoalbuminemia due to intestinal lymphangiectasia. All had failed to respond to empiric therapy for presumed bacterial cellulitis before results of skin biopsy or aspiration were available for the correct diagnosis to be made. With administration of systemic antifungal therapy, two patients survived. Although other forms of cryptococcal involvement of the skin are not rare, cellulitis is seldom considered to be a cutaneous manifestation of the disease. Our cases and a review of the English-language literature indicate that Cryptococcus neoformans must be included in the differential diagnosis of cellulitis in immunocompromised patients and that the presence of cryptococcal cellulitis suggests disseminated cryptococcal disease. Prompt diagnosis and treatment may dramatically reduce mortality.

A patient presenting with predominantly gastrointestinal symptoms and a history of myocardial infarction was found to have ascites, hepatosplenomegaly, para-aortic lymphadenopathy, thrombocytosis, and a paraproteinaemia. A jejunal biopsy specimen showed lymphangiectasia and histology of the spleen and lymph nodes showed angiofollicular hyperplasia or Castleman's disease of the hyaline vascular type. This association has not previously been described and, moreover, systemic symptoms are unusual in this variant of Castleman's disease.

A 47-year-old man with primary intestinal lymphangiectasia developed chylous reflux into the skin of the right flank. The clinical appearance resembled lymphangioma circumscriptum with multiple dome-shaped vesicles filled with milky-white fluid which discharged on to surrounding skin. Backflow of chyle into the skin of the lower limb, perineum or external genitalia has been described as a rare finding in patients with primary lymphoedema but we believe this to be the first case involving the abdomen and the first case describing chylous reflux into the skin in a patient with intestinal lymphangiectasia.

An 8 year old girl with recurrent upper gastrointestinal bleeding was found to have localised duodenal lymphangiectasia by fibreoptic endoscopy. She did not show physical signs or laboratory evidence of significant enteric protein loss. A low fat diet seemed to prevent further bleeding. Duodenal lymphangiectasia may be associated with gastrointestinal bleeding in children.

This case report concerns a young woman with systemic lupus erythematosus who presented with a protein-losing enteropathy. Intestinal biopsy revealed lymphangiectasia. Mesenteric lymph nodes showed paracortical lymphoid depletion and multiple small sinusoids. Elevated cholesterol levels and normal lymphocyte counts characterized the peripheral blood samples. Lymph nodes, though enlarged, showed no evidence of obstructive pathology. No secondary cause of lymphangiectasia could be identified. The patient exhibited antinuclear antibodies and antibodies to dsDNA at the onset, and then, 5 yr later, the classic features of systemic lupus erythematosus (SLE). The lymphocytopenia and hypolipidemia that characterizes lymphangiectasia is not a feature of the SLE cases reported to date. Furthermore, the mechanism for the dilated lymphatics and villous edema is more likely immunological than mechanical disruption of lymphatics.

A 13-year-old girl presented with malabsorption which was ascribed to intestinal lymphangiectasia. Three years later a generalised seizure resulted from hypocalcaemia that was shown to be due to hypoparathyroidism during investigation of which toxic copper accumulation was recognised. The chance occurrence of three rare conditions is extremely remote making intestinal lymphangiectasia likely as the primary pathology. It is suggested that chronic intestinal loss of the copper-carrying caeruloplasmin resulted in toxic parathyroid deposition of copper leading to hypoparathyroidism with consequent hypocalcaemic seizure.

A 7-year-old white girl presented with recurrent abdominal pain because of gastroesophageal reflux. At endoscopy, we found intestinal lymphangiectasia in the duodenal biopsy. There were no physical signs, nor any laboratory evidence of enteric protein loss.

Exsudative enteropathy was suspected in a 27-year-old man with lower limb edema, hypoprotidemia and hypoalbuminemia. Gastrointestinal mucosa, kidney, liver, and heart were normal. Laparoscopy showed diffuse small intestine lymphangiectasia. This diagnosis was confirmed by the microscopic examination of several biopsies obtained at laparotomy. Pathological examination of peritoneal, lymph nodes, and liver biopsies showed fibrous thickening of the peritoneum and fibrosis of the lymph nodes. Our patient has been followed for 16 years. Substantial improvement of clinical symptoms was obtained by following a special salt-free diet containing short-chain triglycerides. However biochemical abnormalities have persisted. Exsudative enteropathy due to intestinal lymphangiectasia may be observed in heart and liver diseases as well as in malignant affections of mesenteric lymph nodes. If these conditions are excluded, intestinal lymphangiectasia may be considered as a primitive lymph vessel malformation. The discovery of primitive intestinal lymphangiectasia in an adult cannot be attributed to congenital abnormalities alone. Fibrosis encountered in some cases suggests that an inflammatory process of unknown origin may trigger the onset of intestinal lymphangiectasia.

Two cases in which macroglobulinaemia was associated with intestinal lymphangiectasia are recorded. Immunoperoxidase stains demonstrated a high content of monoclonal IgM in the intestinal lymph. The seven previously recorded examples of this association are reviewed. It is concluded that the concurrence of these two conditions is not merely fortuitous, and that increased viscosity of the lymph consequent on its high IgM content may be important in the pathogenesis of the intestinal lymphangiectasia.

We report a patient who presented with bilateral leg swelling, in whom a diagnosis of intestinal lymphangiectasia was made by small bowel biopsy. Failure to consider the differential diagnosis of edema and lymphedema in an adolescent could cause a considerable delay in diagnosis. We present a brief review and approach to the edematous patient.

Enlargement of the valvulae conniventes is an integral part of the pattern diagnosis of primary small bowel disease causing malabsorption. The pathophysiology underlying enlargement of the fold and the most typical diseases with prominent folds leading to malabsorption are discussed. Differential diagnosis is based on enlargement of the fold and on secondary signs.

A unique case of enamel hypoplasia is presented. This appears to be the first case to be published in connection with the rare protein-losing enteropathy, intestinal lymphangiectasia. It seems likely that if the treatment of systemic disease is delayed, disruption of normal tooth formation is inevitable.

We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

The management of chylous ascites presenting in association with primary lymphedema of the limbs and possibly lymphatic malformation in the lungs is difficult when the increasing abdominal distension causes respiratory distress. Laparotomy may be useful in traumatic chylous ascites or in intestinal lymphangiectasia localized to a segment of the bowel. It would seem that when conservative management such as diuretics, diet, and repeated abdominal paracentesis do not improve the respiratory distress, a peritoneo-venous shunt is logical. This report of two patients with severe chylous ascites and generalized lymphatic malformations causing or accentuating respiratory distress, stresses the possibility that peritoneo-venous shunts may not have the same long term function as seen in cirrhotic ascites. Long-term follow-up on the use of these shunts specifically for chylous ascites is not available.

Four infants had noninfectious intractable diarrhea, vomiting, anasarca, hepatomegaly, hypoglycemia, and malnutrition within the first 3 months of life. Their parents originated from the same Northeastern part of Quebec, and consanguinity was found in two kindreds. Diarrhea was secretory in three infants (mean stool volume 87 ml/kg/day, Na+ 108 mEq/L, Cl- 85 mEq/L). Hypoalbuminemia (mean 2.0 gm/dl), present in all infants, appeared to be secondary to a protein-losing enteropathy, which was documented in two infants. Histologic examination of the upper small intestine showed only mild to moderate villous atrophy. The remarkable findings were those of cystic dilation of the crypts and acute inflammation of crypts and lamina propria, all of which were most prominent in the colon and terminal ileum; the changes were progressive over time. Mild lymphangiectasia was found in all of the patients. Congenital hepatic fibrosis, present in all, was associated in one patient with a nonfunctional multicystic kidney. Prolonged total parenteral nutrition, intravenously administered albumin, antisecretory agents, and antibiotics were unsuccessful in controlling the disease. Although a total colectomy was followed by a temporary decrease in stool output and normalization of serum albumin concentration in one infant, the patients died between 4 and 21 months of age.

Aplasia cutis congenita (ACC) is a rare skin defect usually localized to the vertex. It has been reported in association with other disorders involving mainly ectodermal and mesodermal structures. We discovered the association of ACC and intestinal lymphangiectasia (IL) in a patient and probably in his brother. At birth, the propositus had ACC of the vertex and edema, which persisted for six months. At 3 years of age he presented with generalized edema and was found to have hypoproteinemia and lymphopenia. Radioisotope studies and a small-intestinal biopsy confirmed the diagnosis of IL. On a fat-free, medium-chain triglyceride-containing diet, clinical and laboratory findings returned to normal. A sibling born one year after his brother's presentation had nonpitting limb edema and extensive ACC of the vertex with an underlying bony defect. He died in shock at 2 months of age, after sudden profuse bleeding from the sagittal sinus. The association between ACC and IL is another example of combined anomalies with both ectodermal and mesodermal involvement that is most probably not coincidental.

Two cases of lymphangiectasia of the small intestine in elderly women are presented. The condition manifested itself in one case by a sudden perforation of the jejunum; in the other case by ileus of the terminal ileum. In both cases the disease process pursued a relentless course that ultimately led to the death of the patients. Elective surgery in patients with lymphangiectasia has been performed before. Acute surgery of lymphangiectasia of the small intestine with complaints of acute abdomen, obstruction or perforation as presenting signs of the disease has not been described previously.

Intestinal lymphangiectasia, a disease characterized by excessive intestinal protein loss, asymmetrical peripheral edema, ascites, immunologic deficiencies, lymphocytopenia, hypoalbuminemia, imparied lymphocyte transformation, gastrointestinal symptoms and retarded growth, is the result of abnormal, distorted and obstructed lymph channels, causing rupture of intestinal lacteals from back-flow of lymph, with leakage of nutrient-laden lymph into the lumen of the bowel. A case of congenital intestinal lymphagiectasia is described, with the additional problems of allergic asthma, rhinitis, eczema and lactase deficiency. This patient, an 11-year-old child, was greatly benefited by proper allergy management (elimination diet, hyposensitization) plus restriction of fats and supplementing the diet with medium-chain triglycerides (MCT).

A patient is described, the subject of a previous report (Ross et al., 1971), who subsequently developed gross peripheral mosaic warts and a malignant small bowel lymphoma in association with marked lymphocyte depletion.

The case of a woman with SLE and protein-losing enteropathy secondary to intestinal lymphangiectasia is described. Corticosteroid therapy improved all clinical symptoms, laboratorial findings and intestinal histological alterations.

The development of generalized edema is the consequence of a decreased level of proteins in the plasma, due to a deficient intake or exaggerated loss. The gastrointestinal system may cause this deficiency at three different levels. We report three clinical cases of protein losing enteropathy at different locations, such as: giant hypertrophy of the gastric mucosa, intestinal lymphangiectasia and Crohn's disease. In each case we tried to demonstrate the sites that could mainly be affected in the gastrointestinal system and taking into consideration that these are rare entities, we made a brief description of them.

A case of high grade malignant lymphoma in a young woman with congenital disseminated lymphangiectasis, exudative enteropathy and immunodeficiency is reported. Lymphoid malignancies occur with a high frequency in the course of this rare disease, possibly as a consequence of immunodeficiency. In this case, a selective defect of the OKT4+ peripheral blood lymphocyte subset has been shown. The relationships between congenital lymphangiectasis, immunodeficiency and malignant lymphoma are discussed.

In a 27-year-old patient suffering from Crohn's disease covering nearly the entire small intestine, the major problem was a marked protein-losing enteropathy which required long-term intravenous replacement. Accidentally, we disclosed a dilated thoracic duct with incompetent valves and stenosis at the junction into the subclavian vein in this patient. To reduce the intestinal protein loss, an anastomosis was performed between the thoracic duct and the internal jugular vein. Subsequently the intestinal protein loss dropped from 40 to 26% and replacement of proteins could be reduced. The patient was observed for 4 years postoperatively and the therapeutic effect continued. Besides this therapeutic aspect, the present case gives cause to consider the possible role of the lymphatics in the pathogenesis of Crohn's disease.