Abstract
Objectives
Primary intestinal lymphangiectasia is a rare cause of protein losing enteropathy. It is usually seen in children less than 3 years of age. The disease is characterised by dilatation and engorgement of lymphatics in the small bowel due to congenital malformation of lymphatic channel or hypoplasia of lymphatics.
Methods
A 10 month old female child was admitted with a h/o persistent diarrhoea and generalised swelling of the body for 15 days. She was exclusively breastfed till 6 months, complementary feeding started thereafter. On examination, both eyelids were edematous with b/l pedal edema and abdominal distension. Investigations showed hypoalbuminemia, hypoproteinemia and thrombocytosis. Urine, stool examination and spot urine protein creatinine ratio were normal. USG abdomen showed mild ascites and edematous bowel loops. UGI endoscopy and biopsy showed multiple fragments of duodenal mucosa with subepithelium showing multiple dilated lymphatic spaces. The child was started on high protein, low fat diet with MCT, vitamin D, zinc and FFP transfusion. Child improved clinically with reduced edema and loose stools, hence discharged. I/v/o persistent thrombocytosis, we considered possibility of a rare syndrome, CHAPLE (Complement hyperactivation, Angiopathic Thrombosis and Protein losing enteropathy). However, CD55 level was normal and hence we also considered further evaluation for non -CHAPLE PIL but genetic work up could not be done.
Results
PIL should be considered as one of the differential diagnosis in a child presenting with anasarca. The main modality of treatment in our case was high protein, low fat diet and MCT supplements. Child was on regular follow up with pediatric gastroenterologist for about 3 months. Mother reported the baby had persistent loose stools and was treated at home and died before reaching a hospital. We have heard in literature about good outcomes in PIL as well as frequent relapses with chronicity. This acute life threatening event in PIL needs to be discussed regarding possibility of any thrombosis secondary to dehydration and thrombocytosis.
Conclusions
PIL is a rare condition seen in children less than 3 years. Early diagnosis with endoscopic visualization of the gut and biopsy of the small bowel may play a great role. Mainstay of treatment is high-protein, low fat diet with MCT supplement.
Funding Sources
None.
Anasarca in an Infant – An Unusual Cause