Abstract

Question: A 3-month-old Caucasian girl presented with a neonatal history of abdominal distension. On physical examination, her abdomen was massively distended, with bulging flanks, and was dull to percussion. The abdominal girth was 50 cm. Bilateral lower limb edema was present. Abdominal ultrasonography showed massive ascites and diffuse edematous bowel wall. Routine laboratory tests showed: white blood cells 2900/mm3 with 27% lymphocytes; serum albumin level, 1.9 g/dL; immunoglobulin (Ig)G, 69 mg/dL; IgA, 32 mg/dL; and IgM, 21 mg/dL. Liver and renal function tests, as well as coagulation tests, were normal. There was no evidence of congenital TORCH infection. Abdominal paracentesis yielded 150 mL of milky fluid with white blood cells of 300/mm3 (93% lymphocytes) and high triglycerides level (169 mg/dL), confirming the diagnosis of chylous ascites. After an unsuccessful 10-day trial with 75% medium-chain triglycerides (MCT)-based formula (Caprilon; Nutricia Advanced Medical Nutrition, The Netherlands), total parenteral nutrition (TPN) was started, followed by rapid improvement of ascites and laboratory test. Upper gastrointestinal endoscopy performed after 2 days of exclusive breast feeding revealed edema of the duodenal mucosa with whitish opaque spots corresponding to swollen villi (“snowflake appearance”; Figure A). What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. Histologic evaluation of duodenal biopsies showed dilated mucosal lymphatic vessels with dense lymphoplasmacellular infiltrate of the lamina propria (Figure B). Slow weaning from TPN and introduction of low-fat (90% MCT), high-protein infant formula (Monogen; Nutricia Advanced Medical Nutrition) supplemented with fat-soluble vitamins was started. Full enteral feeding was established over the next 2 weeks without clinical deterioration. At the 6-month follow-up, there was no recurrence of the ascites and growth was normal. Primary intestinal lymphangiectasia (PIL) is a rare disease presenting with diarrhea, ascites, and bilateral lower limb edema. Hypoproteinemia owing to obstruction of the intestinal lymphatic vessels and loss of lymph fluid in the gastrointestinal tract is the main pathophysiologic feature.1Braamskamp M.J. Dolman K.M. Tabbers M.M. Clinical practice Protein-losing enteropathy in children.Eur J Pediatr. 2010; 169: 1179-1185Crossref PubMed Scopus (97) Google Scholar The prevalence of PIL is unknown. PIL primarily affects children (generally diagnosed before 3 years of age), but milder cases may be diagnosed later in adulthood. Neonatal presentation is exceptional.2Salvia G. Cascioli C.F. Ciccimarra F. et al.A case of protein-losing enteropathy caused by intestinal lymphangiectasia in a preterm infant.Pediatrics. 2001; 107: 416-417Crossref PubMed Scopus (35) Google Scholar Diagnosis mainly relies on endoscopic findings with the corresponding histology of intestinal biopsy specimens. A low long-chain triglycerides diet to prevent engorgement and rupture of intestinal lymphatics, supplemented with MCT, which are directly absorbed into the portal venous circulation, is the cornerstone of management of PIL.3Tang Q.Y. Wen J. Wu J. et al.Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia.World J Pediatr. 2011; 7: 79-82Crossref PubMed Scopus (7) Google Scholar Our patient tolerated 10% long-chain triglycerides, which meets the minimum requirement of essential fatty acids. In resistant or unresponsive cases, somatostatin infusion along with TPN may help to close the lymphatic leakage or relieve the symptoms effectively. A patient-specific approach should be attempted for diagnosing and managing PIL in infancy, and intervention started as soon as possible to relieve symptoms and allow normal growth.

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