Celiac sprue in Down's syndrome: considerations on a pathogenetic link

Abstract

The association of celiac disease with Down's syndrome is described in two patients who presented with features of the malabsorption syndrome. The diagnosis was readily made by peroral jejunal mucosal biopsy. Both patients responded clinically to dietary gluten withdrawal and one patient demonstrated a recrudescence of symptoms and reappearance of jejunal mucosal atrophy upon rechallenge with dietary gluten. Genetic considerations in the etiology of both disorders are discussed.