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Intestinal Lymphangiestasia With Hennekam Syndrome

Viswanathan, Preeti; Novak, Inna

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Journal of Pediatric Gastroenterology and Nutrition: December 2017 - Volume 65 - Issue 6 - p e133
doi: 10.1097/MPG.0000000000001155
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A 3-month-old girl with chronic diarrhea, facial dysmorphism, pedal edema, and growth failure was admitted for management of hypoalbuminemia. Evaluation revealed hypocalcemmia and hypogammaglobulinemia. Lymphangiogram revealed radionuclide tracer activity in the left upper quadrant of the abdomen suggestive of lymphangiectasia. Esophagogastroduodenoscopy and colonoscopy showed pinpoint white lesions in distal duodenum and proximal jejunum, minimally dilated lacteals on biopsies, and prominent and edematous ileocecal valve (Fig. 1). Large white subepithelial elevations were noted in the terminal ileum for about 5 cm (Fig. 2), also determined to be dilated lacteals on biopsies (Fig. 3), whereas more distally the mucosa gradually normalized. Her brother had Hennekam syndrome and died from sepsis in infancy.

Ileocecal valve.
Terminal ileum.
Histology terminal ileum.

Hennekam syndrome is an autosomal recessive disease with intestinal lymphangiectasia, lymphedema, facial flattening, broad nasal bridge, and hypertelorism, and sometimes glaucoma, hearing loss, and mental retardation. Diagnostic tests for intestinal lymphangiectasia include endoscopy, video capsule endoscopy, radionuclide lymphangiography, and magnetic resonance imaging (1). Use of video capsule in infants is restricted due to risk of impaction. Colonoscopy should be considered for patients with suspected lymphangiectasia to diagnose ileal involvement.


1. Vignes S, Bellanger J. Primary intestinal lymphangiectasia (Waldman's disease). Orphanet J Rare Dis 2008; 22:1172–1175.
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