A rare cause of failure to thrive in infancy

Abstract

Primary intestinal lymphangectasia (PIL), also known as Waldmann’s disease, is a rare disorder characterized by an exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics.

Moderate to severe oedema with pleural effusion, pericarditis, or chylous ascites is the main clinical manifestation but lymphoedema, abdominal pain, weight loss, moderate diarrhoea, vomiting, and fat-soluble vitamin deficiencies may also be present. Patients can also develop hypocalcaemia secondary to failure to absorb fat and fat-soluble vitamins.

We report a nine-month-old male infant with a four-week history of diarrhoea, vomiting, failure to thrive, peripheral oedema and tetany. Hypoalbuminaemia, hypocalcaemia, low vitamin D levels and lymphopaenia were found on initial investigations. A raised stool alpha-1-antitrypsin supported a diagnosis of a protein losing enteropathy. At gastroscopy typical ‘cotton ball or frosted appearance’ was visible particularly in the second (D2) and third part (D3) of the duodenum. Biopsies from D3 revealed dilated lymphatics suggestive of primary intestinal lymphangectasia. The infant was managed with a high protein, high MCT, low fat diet with improvement in his symptoms and growth pattern.