Hennekam syndrome: A rare and often ignored cause of intestinal lymphangiectasia

摘要

One other rare cause of intestinal lym-phangiectasia is Hennekam syndrome [1 ]. Hennekam syndrome is typically characterized by the presence of intestinal lym-phangiectasia, mental retardation, and characteristic facial anomalies [2]. It is an autosomal recessive disorder, and consanguinity has been noted as a major contributing factor in transmission of the trait. In addition to the bowels, the lymphan-giectasia may develop in renal tissue and endocrine glands such as the thyroid. A number of associated rare features may be seen in some patients. For example, Angle et al. have recently reported rectal prolapse as well as vesicoureteral reflux in a female patient with Hennekam syndrome [3].