Primary Intestinal Lymphangieactasia in a Child

Abstract

Primary intestinal lymphangiectasia is one of the causes of protein losing enteropathy in children. Three years old female child presented with anasarca, failure to thrive, anemia due to primary intestinal lymphangieactasia. Diagnosis was made by endoscopic finding with histopathology of small intestinal mucosa. She responded to diet therapy with medium chain triglycerides along with fat soluble vitamin supplementation. She is in clinical remission without loose stools, fluid retention with catch up growth on follow up period of three years till now.Keywords: Primary intestinal lymphangiectasia; Protein losing enteropathy; Chronic diarrhea; Children; Small intestinal biopsy Case ReportThree years old female child, third born of non-consanguineous parents presented with recurrent loose watery stools without blood, 6-8 episodes per day with pedal edema and puffiness of face since infancy. There was no history of cough, wheeze, rash or vomiting. Clinical examination revealed mild pallor, pedal edema, facial puffiness with weight and height less than 3SD as per WHO growth chart. Abdomen was distended with free fluid without organomegaly. Differential diagnosis of chronic diarrhea with hypoproteinemia in young children can be either primary or secondary. Some of the secondary causes include cow's milk protein allergy, intestinal tuberculosis, Strongyloidiasis, Crohn's disease, eosinphilic enteritis and hence investigations were done accordingly. Investigations showed Hb 10 gm/dl, TC 12,000 cells/cu mm. differential count polymorphs 70%, lymphocytes 30%, platelet count 4 lakhs and peripheral smear showed moderate hypochromic anemia. Blood sugar, renal function tests were normal. Motion for ova, cyst and occult blood were negative on three different occasions. Serum total protein was 4.5 gm/dl with albumin 2 gm/dl. Ascitic fluid protein was 134 mg/dl with elevated triglycerides. Chest X-ray was normal. Mantoux and retroviral tests were negative. USG abdomen showed thickened and edematous bowel with ascites. Upper GI endoscopy done using Olympus Video scope, under conscious sedation showed white fluffy flakes of duodenal mucosa due to oozing of lymph ( Figure 1) and duodenal biopsy was done. Histopathology of duodenum showed prominent dilatation of lymphatic vessels within lamina propria, blunting of villi, and mild increase in plasma cells, scattered neutrophils and eosinophils consistent with intestinal lymphangiectasia. Child is on nutritional rehabilitation along with low fat diet and medium chain triglycerides, regular fat soluble vitamin supplementation. She is on regular follow up for three years and she is asymptomatic without loose stools, fluid retention with weight of sixteen kg at six years (3 rd centile as per CDC growth chart).

Primary intestinal lymphangiectasia in a 23-month- old girl

“…Hokari et al reported an inconsistently changed expression of regulatory molecules for lymphangiectasia in the duodenal mucosa of PIL patients [4]. Recently, CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) has been identified as a monogenic form of PIL [5]. It can also be a component of Hennekam syndrome which is an autosomal recessive disorder characterized by the association of lymphedema, intestinal lymphangiectasia, moderate mental retardation, and facial dysmorphism [6].…”

“…Primary intestinal lymphangiectasia (PIL) is a rare disorder often diagnosed in children before the age of three and rarely in adolescents. This clinical condition was first identified by Waldmann as ‘idiopathic hypercatabolic hypoproteinemia’, so it is also called as Waldmann’s disease [1]. Intestinal lymphangiectasia (IL) can be primary, in which there is no predisposing condition for increased lymphatic pressures and that is probably due to congenital anatomic malformation of the lymphatics.…”

Nutritional therapy and effect assessment of infants with primary intestinal lymphangiectasia

“…[ 4 ] Since then, although several studies have investigated cases of IL, [ 5 – 7 ] it remains to be a rare occurrence, and cases of infants with PIL are even rarer. [ 8 , 9 ]…”