Wednesday, March 21, 2007

Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome

Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome

M. Heruth1, P. Müller1,3, L. Liebscher1, G. Kurze1, T. Richter2,3
1 Abt. Kinder- und Jugendmedizin, HELIOS Krankenhaus, Leisnig2 Klinik für Kinder- und Jugendmedizin, Städtisches Klinikum „St. Georg”, Leipzig3 Universitätsklinik und Poliklinik für Kinder und Jugendliche, Leipzig

Background: Congenital peripheral elephantiasiformic alterations are very rare in paediatric patients. In a patient with lymphangiectasia-lymphedema syndrome we demonstrate over a 8-year follow-up that not only cosmetic and social indications for surgical treatments but also internal care become important during the course.

Patient: We report on a boy with congenital lymphedemas of the extremities and the genital region, which were several times surgically treated. The patient became symptomatic firstly with tetanic cramps caused by malabsorption syndrome due to intestinal lymphangiectasia at the age of 6 years. Synopsis of clinical and laboratory findings and the patient's course are pointing to a mild Hennekam syndrome with still unknown aetiology.

Results: The boy developed adequately with permanent oral substitution of electrolytes and vitamins, protein-rich diet, supplementation of medium-chain fatty acids and compressing bandages. Infusions of human albumin to correct persistent hypalbuminemia as well as cytostatic treatment with cyclophosphamide as a formal trial were ineffective and are not advisable, therefore.

Key words: Hennekam syndrome - lymphangiectasia-lymphedema syndrome - exudative enteropathy

Thieme Connect