Intestinal lymphangiectasia: chronic diarrhea in childhood

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Intestinal lymphangiectasia: chronic diarrhea in childhood

Postby patoco » Thu Sep 21, 2006 8:50 pm

Primary intestinal lymphangiectasia: A rare cause of chronic diarrhea in childhood

Doğancı Tümay1, Kara F. Nazlı2, Gökdemir Mahmut3, Ensari Arzu4, Özalp Sıla2, Çakar Nilgün 2, Atakan Canan3

Ankara University School of Medicine, Departments of Pediatric Gastroenterology1, Pediatric Nephrology2, Pediatric Ward of SSK Children’s Hospital3, Pathology4, Ankara

Keywords: Primary intestinal lymphangiectasia, childhood, chronic diarrhea.


A case of primary intestinal lymphangiectasia which was diagnosed on the basis of multiple peroral jejunal biopsies along with a highly suggestive clinical history is presented. Treatment with a high-protein, very low fat diet with medium-chain triglycerides was effective in alleviating the diarrhea and hypoproteinemia. The patient also had a smaller than normal left kidney and a dilated ureter on the same side. This case is reported due to its rarity.


Primary intestinal lymphangiectasia (PIL) is a disorder characterized by dilated lymphatics, protein losing enteropathy, hypoalbuminemia and lymphopenia due to excessive protein loss into the bowel. Dilated enteric lymphatics may be diffuse or localised in the mucosa, submucosa or subserosa and the rupture of these lymphatics results in edema, growth failure and intermittent diarrhea (1-5).
The presentation of PIL may occur at anytime during infancy and childhood and the manifestations and severity of this disorder may vary. A patient with asymptomatic intestinal lymphan-giectasia has also been described (6). Although the lesion may show a patchy pattern in distribution, multiple endoscopic jejunal biopsies are usually sufficient for diagnosis (1,3). Normal biopsy appearances do not exclude the diagnosis (7).

Specific treatment with a high-protein, very low fat diet with added medium-chain triglyceride (MCT) is usually effective in preventing or alleviating the diarrhea and hypoproteinemia (1,2,4). The disease may be chronic or transitory and the need for dietary therapy is often permenant although occasional spontaneous remissions may occur (1,2).

Case Presentation

A two year-old boy was admitted with a three month history of chronic diarrhea. The diarrhea was characterized by four to five loose and malodorous stools per day. On physical examination, the patient’s weight was 13 kg and height was 82 cm. Physical examination revealed carpopedal spasm which started two days previously and periorbital and extremital edema which was symmetric and pitting.
The initial laboratory studies revealed the following values; serum total protein 3.4 g/dL, albumin 2 g/dL; calcium 3.7 mEq /dL, immunoglobulin G 1.25 g/L , immunoglobulin A 0,1 g/L, immunoglobulin M 0.6 g/L, hemoglobin 12 g/dL, hematocrit 37 % and white blood-cell count 13 000 /mm3. Differentials included 6% bands, 60% neutrophils, 30% lymphocytes and 4% mononuclear cells. Normal laboratory values included serum sodium chloride, potassium, urea nitrogen, glucose, creatinine, uric acid, alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, bilirubin and urinalysis. The urine culture was sterile, while stool was negative for white blood cells, occult blood, parasites and fat. Stool pH, reducing substances in stool and stool tryptic activity were found to be within normal limits.

The tuberculin skin test was negative and cow’s milk prick test was (++). Chest x-ray was normal and x-ray examination of the small intestine revealed only minimal dilatation of the intestinal loops. Abdominal ultrasonography revealed the left kidney to be 51 mm in length and the parenchyma 6 mm with grade 2 ecogenity whereas the right kidney was 75 mm in length and the renal parenchyma was 10 mm. The right kidney was normal on technetium-99m-dimercaptosuccinic acid (Tc -99m-DMSA) and technetium DTPA renal scintigraphy. The concentrating function of the left kidney was decreased along with an irregular response to diuretic. It was smaller than normal. Excretion began at the fourth to sixth minute, but the response to the diuretic injected at the 22nd minute was sufficient. The left ureter was dilated. Both kidneys were seen at the same time on intravenous pyelography. The left kidney was smaller than normal with normal pelvicaliceal structure. The distal third part of the left ureter was dilated and the voiding cystourethrograhy was normal.

The patient underwent an endoscopic small intestinal biopsy, in which the esophagus and stomach had a normal apperance, but a chyle like substance covering the mucosa of the duodenum was observed. Five biopsy specimens were taken from these lesions. Microscopic evaluation of these biopsies revealed dilated lacteals which were characteristic of intestinal lymphangiectasia (figure 1).

Figure 1: Dilated lacteals of PIL case (H&E X 100 with light microscopy

Clinical Course

The patient was admitted urgently due to severe hypocalcemia and hypoprotenemia. After multiple intravenous injections of calcium gluconate, human albumin and diuretics, hypocalcemia and edema decreased slightly.

Following the diagnosis of intestinal lymphan-giectasia, the patient was put on a high protein (with no cows milk products), decreased long-chain fat diet with the addition of medium-chain triglycerides(MCT), including vitamins. The patient’s diarrhea subsequently improved and his edema subsided. Serum total protein, albumin, calcium and immunoglobulin levels returned to normal within a month. He started to gain weight and could tolerate milk products further without complaints. It was considered that he had fully recovered with this specific diet.


Primary intestinal lymphangiectasia, which was described in 1961 by Waldmann, is a rare developmental abnormality. It may also occur as part of Noon’s, Turner’s and Klippel-Trenaunay-Weber syndromes (6). Familial incidence has also been reported. Occasionally, as a result of lymphatic obstruction or elevated lymphatic pressure, secondary intestinal lymphangiectasia may be seen along with cardiac disorders such as congestive heart failure or constrictive pericarditis. Inflammatory processes (Crohn’s disease, Whipple’s disease, Behçet’s syndrome, systemic lupus erythematosus) causing retroperitoneal lymph node enlargement or fibrosis may lead to obstruction of enteric lymphatics, while chemotherapeutic agents and some toxic substances may also directly damage the lymphatics (1-3,8,9). It is also reported that chronic giardiasis may cause secondary intestinal lymphangiectasia (10). Our patient presented with characteristic signs of intestinal lymphangiectasia including hypoproteinemia, hypogammaglobulinemia, hypocalcemia, edema and chronic diarrhea. Definitive diagnosis of this disorder is dependent on histologic findings. Our patient was considered as a PIL case as no other pathology could be found. He also had abnormal renal findings, which is rare and probably incidental. Because of the continuous loss of lymphocytes into the bowel lumen, patients with intestinal lymphangiectasia have lymphopenia (especially CD4T helper cells), hypogammaglobulinemia, impaired cell mediated immunity and neutrophil dysfunction. In addition, intestinal lymphangiectasia seems to lead to T lymphocyte functional disorders. It is assumed that a decrease in vitro production of immunoglobulins by B lymphocytes may be due to faulty T/B cell cooperation (1,2,11-13). In spite of these abnormalities, such patients do not seem to have significant infectious problems as in our case (7,11) although only hypogammaglobulinaemia and negative tuberculin skin test were found in our patient. The hypogammaglobulinaemia as well as hypoproteinemia and hypocalcemia returned to normal limits soon after commencment of treatment.
The characteristic radiologic findings are uniform, symmetric thickening of mucosal folds throughout the small intestine and nodular or punctate lucencies in the mucosa (1-3). In our case, we found only dilation of the ileal loops, which was nonspecific.

As the lesions may be patchy in distribution, the blind small bowel biopsy obtained with the capsule may not be sufficient for diagnosis (5,6). Dilated lacteals associated with distortion of the villi can be seen in the biopsy material, which is necessary to make a definite diagnosis (1,3,5). In our patient, multiple endoscopic jejunal biopsies were taken from the chyle-like substance that covered the mucosa and the diagnosis was made histologically.

Our patient made a full recovery on a high-protein (without milk and milk-products), low-fat diet with MCT. The first use of MCT was described in 1969; it is absorbed directly into the portal system, provides energy and lessens lacteal engorgement. A low fat diet reduces lymphatic flow and pressure and decreases the amount of lymph leakage (1,2,7). This dietary treatment provides symptomatic relief and improvement in growth rates (7). In most patients, the need for dietary treatment appears to be permenant (7). Those with intestinal lymphangiectasia may have reduced serum levels of folic acid, vitamin B12, and vitamin E and it may also cause spinocerebellar syndrome due to vitamin E deficiency (14). Mild anemia may also occur but usually responds to oral iron therapy (7). Our patient was given only empirical oral vitamins and iron therapy was not necessary.

For patients with localised lymphatic abnormality, localised resections may provide a cure and surgical shunts have been used with persistent chylothorax or chylous ascites (15). Lymphangiography and lymphoscintigraphy may be useful not only in diagnosis but also in detecting the affected region of the gastrointestinal tract (1,16,17). It is also noted that anti-plasmin therapy may be useful in patients unresponsive to standard therapy (18).

The presentation of this patient emphasizes an important feature of intestinal lymphangiectasia. It is essential to confirm the pathology by endoscopic biopsy. Although this is a rare disorder in childhood, it is important to remember that specific treatment may allow full-recovery


1) Proujansky R. Protein-losing enteropathy In: Walker WE, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, Ed. Pediatric Gastrointestinal Disease, St Louis: Mosby Company, 1996: 971-5.

2) Vardy PA, Lebenthal E, Schwachman H. Intestinal lymphangiectasia: a reappraisal. Pediatrics 1975; 55: 842-51.

3) Asakura H, Miura S, Morishita T, et al. Endoscopic and histopathological study on primary and secondary intestinal lymphangiectasia. Dig Dis Sci 1981; 26: 312-20.

4) Mistilis SP, Skyring AP. Intestinal lymphangiectasia, therapeutic effect of lymph venous anastomosis. Am J Med 1996; 40: 634-41.

5) Hart MH, Vanderhoof JA, Antonson DL. Failure of blind small bowel biopsy in the diagnosis of intestinal lymphangiectasia. J Ped Gastroenterol Nutr 1987; 6: 803-5.

6) Van der Meer SB, Forget PP, Willebrand D. Intestinal lymphangiectasia without protein loss in a child with abdominal pain. J Ped Gastroenterol Nutr 1990; 10: 246-8.

7) Tift WL, Lloyd JK. Intestinal lymphangiectasia, long-term result with MCT diet. Arc Dis Child 1975; 50: 269-76.

8) Edworthy SM, Fritzler MJ, Kelly JK, et al. Protein losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia. Am J Gastroenterol 1990; 85:1398-402.

9) Moss SF, Thomas DM, Mulnier C, et al. Intestinal lymphangiectasia associated with angiofolliculer lymph node hyperplasia (Castleman’s disease) Gut 1992; 33: 135-7.

10) Öksüzoğlu G, Aygencel G, Haznedaroğlu HC, et al. Intestinal lymphangiectasia due to recurrent giardiasis. Am J Gastroenterol 1996; 91: 409-10.

11) Heresbach D, Raoul JL, Genetet N, et al. Immunological study in primary intestinal lymphangiectasia. Digestion 1994; 55: 59-64.

12) Bolton RP, Cotter KL, Losowky MS. Impaired neutrophil function in intestinal lymphangiectasia. J Clin Pathol 1986; 39: 876-80.

13) Foster PN, Bullen AW, Robertson AF, et al. Development of impaired splenic function in intestinal lymphangiectasia. Gut 1985; 26: 861-4.

14) Gutmann L, Shockcor W, Gutmann L, Kein CL. Vitamin-E deficient spino-cerebellar syndrome due to intestinal lymphangiectasia. Neurology 1986; 36: 554-6.

15) Lester LA, Rothberg RM, Krantman HJ, Shermeta DW. Intestinal lymphangiectasia and bilateral pleural effusions: effect of dietary therapy and surgical intervention on immunologic and pulmonary parameters. Allerg Clin Immunol 1986; 78: 891-97.

16) Lee KH, Chung JK, Lee DS, et al. Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia. J Nucl Med 1996; 37: 639-41.

17) Tadeka H, Takahashi T, Ajitsu S, et al. Protein-losing gastroenteropathy detected by technetium-99m-labeled human serum albumin. Am J Gastroenterol 1991; 86: 450-3.

18) Mine K, Matsubayashi S, Nakai Y, Nakagawa T. Intestinal lymphangiectasia markedly improved with antiplasmin therapy. Gastroenterology 1986; 96: 1596-9.

The Turkish Journal of Gastroenterology

2001, Volume 12, No 1, Page(s) 75-78


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