Objective To review the clinical, biochemical, radiological and histological data of children with intestinal lymphangectasia (IL) in 5 families.

Method Retrospective chart review of familial IL patient.

Results 11 children (6 males) with a mean age of 8.4 years in 5 families. First degree consanguinity was documented in 60% (3/5) of their parents. All patients had edema, growth failure occurred in 7, recurrent chest infection in 5, recurrent chylothorax which needed pleurectomy in 2, diarrhea in 5, hypocalcemic seizure in 2, recurent cellulitis in 4 and 6 had associated congenital lymphedema. All patients had hypoalbuminemia (mean serum albumin: 17 g/l) whereas hypogammaglobinemia, lymphopenia and hypocalcemia were seen in 63.6%, 72.7% and 36% of the cases respectively. Upper GI series were performed in 6 children, which showed thickening of the jejenal folds and nodular, or punctate lucencies in the mucosa of the small bowel. Duodenal biopsies were done in all the cases, 8 showed wide vili, dilated lacteals and enlarged submucosal lymphatic, 2 of them had more than one biopsy to reach the diagnosis. The other 3 showed nonspecific inflammation with partial villous atrophy.

Conclusion Primary IL is a familial disease. It is inherited as an autosomal recessive disease. Further genetic studies is needed.