Hennekam Syndrome Presentıng Wıth Abdomınal Mass

Abstract

We report a patient presenting with an abdominal distention and irritiability, who was found to have Hennekam syndrome. A physical examination revealed left sided hemihypertrophy and a mass with undefined margins around the umblical region. Ultrasonography and contrast enhanced computerised tomography revealed a solid heterogeneous mass extending from the parapancreatic region into the mesenteric root and, diagnostic laparotomy was performed. The intestinal walls and the mesentery were found to be diffusely thickened. Histopathological analysis revealed fibrosis along with cystic enlargement of the lymphatic vessels. The patient had left periorbital edema and facial dysmorphism. Non-pitting edema of the abdomen, left arm, left leg, and left labia majora was noted. Laboratory tests showed hypoproteinemia, hypoalbuminemia, and high faecal α-1 anti trypsin. Endoscopic examination revealed milky fluid oozing from the mucosa into the duodenal lumen. Histopathological analysis revealed total villus atrophy and cryptic hyperplasia. We postulate that an enlargement in the intestinal wall could be mistaken for an abdominal mass, and, we present this case of an abdominal mass as a new manifestation of Hennekam syndrome.