Case Report of Henikam's syndrome and celiac disease in a 3-year-old child

Abstract

The exact cause of Hennickam syndrome is unknown, although some researchers have suggested a genetic etiology. Hennickam syndrome is a rare congenital disorder characterized by severe lymphangiectasia. It results from mutations in the CCBE1 gene and is associated with lymphedema, chronic diarrhea and vomiting, abdominal pain, loss of appetite, ascites, hypoalbuminemia, hypoproteinemia, and some distinctive morphological and structural features.

Lymphedema usually affects one side of the body more severely than the other. This report presents the case of a 3-year-old child diagnosed with Hennekam syndrome associated with celiac disease

The child was admitted to the hospital with complaints of chronic diarrhea, growth failure, and asymmetrical body involvement favoring the left side, accompanied by pitting edema and a broad nasal root . Laboratory tests revealed severe iron deficiency anemia and hypoalbuminemia. The patient received albumin and packed red blood cell transfusions and was started on a gluten-free diet rich in starches, vegetables, and medium-chain fatty acids, along with .supportive doses of fat-soluble vitamins.

The child was started on a gluten-free diet rich in starches, vegetables, and medium-chain fatty acids.

Over a period of six months, the patient showed significant improvement in diarrhea, growth rate, and edema. This paper describes a case of Hennickam syndrome, or congenital intestinal lymphangiectasia, diagnosed clinically and by upper gastrointestinal endoscopy and biopsy, with a favorable response to nutritional therapy.