Hennekam syndrome

Hennekam syndrome is a disorder comprising intestinal lymphangiectasia, fac ial anomalies and moderate mental retardation. Eight cases have been previo usly reported Case report. - A 17-month-old girl was admitted to hospital for peripheral edema On physical examination, she presented with a normal mental developme nt. Facial anomalies were noted including a flat face, depressed and broad nasal bridge, puffy eye lids, mild down-slanting palpebral fissures, hypert elorism, epicanthal folds, bulbous nasal tip, small mouth, and low set ears . A simian line and haemangiomas on the arms, trunk and left limb were also noted There was no organomegaly. Laboratory investigations showed iron def iciency anemia, hypoproteinemia, hypogammaglobulinemia and an elevated leve l of alpha-1 antitrypsin excreted in the feces. Endoscopic investigation an d the small bowel biopsy showed findings consistent with lymphangiectasia. The patient did well on 24 hour enteral nutrition including medium-chain tr iglyceride rich diet and infusion of human albumin. Conclusion. - We have aimed to remind that Hennekam syndrome should be incl uded in differential diagnosis when intestinal lymphangiectasia are associa ted with facial anomalies. (C) 1998 Elsevier, Paris.