Familial neonatal hypoproteinaemia with exudative enteropathy and intestinal lymphangiectasis

Abstract

A child with neonatal oedema who was previously reported as a case of idiopathic hypoproteinaemia was reinvestigated 10 years later and shown to have protein-losing enteropathy and steatorrhoea, and an abnormal small bowel histology with dilated lymphatic spaces and partial villous atrophy. The patient's symptom-free sister was also shown to have protein-losing enteropathy. The relationship of this syndrome to intestinal malabsorption and gluten enteropathy is discussed.