OC87 Intestinal lymphangiectasia – a diagnostic challenge in a child with complex gastroschisis

Intestinal lymphangiectasia is a rare congenital/acquired malformation where impaired lymph drainage leads to lymph leakage in the intestinal lumen and/or peritoneum. Epidemiology is unknown. There are no well-established management guidelines. A review of clinical notes was undertaken along with review of literature.18-month-old female, born at 34 weeks with complex gastroschisis, duodenal and jejunal atresia needing silo reduction followed by laparotomy and duodenal jejunal anastomosis. She required parenteral nutrition (PN) for 2 months and was discharged at 3 months of age. She was lost to follow up and presented with anasarca, chronic diarrhoea, electrolyte imbalance, metabolic acidosis, failure to thrive and persistent hypoalbuminemia at 18 months. She received PN and attempts to feed her led to diarrhoea and hypoalbuminemia. Endoscopy revealed a no-fibrotic colonic stricture 50 cm from anal verge requiring dilatation. She received immunoglobulins for hypogammaglobulinemia. She was also noted to have persistent norovirus in her stools. A clinical diagnosis of protein losing enteropathy was made based on hypoalbuminemia and raised faecal alpha-1 antitrypsin (7.47 mg/g ww) however gastro-duodenoscopy was normal. She was trialled on modular feeds with low fat and medium chain triglyceride. Her genetic screen for R-15, R-33 panel were normal. Whole genome sequencing revealed GLMN variant associated with glomerular malformation. In view of persistently raised alpha-1 antitrypsin she underwent Magnetic resonance lymphangiogram which did not suggest any lymphatic anomalies. A double-balloon balloon enteroscopy revealed mid-jejunal lesions consistent with lymphangiectasia approximately 40 cm from the pylorus (see figure 1). This was confirmed on microscopic appearance (see figure 2). She was then commenced on sirolimus with a favourable response.Intestinal lymphangiectasia should be considered in context of diarrhoea, hypoalbuminemia and raised alpha-1 antitrypsin. Majority of the cases respond well to dietary modification. Small bowel resection may be needed. Radiological investigations alone cannot refute the diagnosis and luminal view is probably the best modality to rule out lymphangiectasia.Abstract OC87 Figure 1Endoscopic appearance of lymphangiectasia[Figure omitted. See PDF]Abstract OC87 Figure 2Microscopic appearance of intestinal lymphangiectasia[Figure omitted. See PDF]