Chronic granulomatous disease with gastrointestinal presentation: diagnostic pitfalls and novel ultrastructural findings

Chronic granulomatous disease (CGD) is a rare congenital disorder, characterized by defects in the NADPH oxidase biochemical pathway leading to defective phagocytic cell function. Life-threatening infections caused by a large spectrum of bacteria and fungi represent the major clinical problem [1]. The diagnosis is usually easily achieved in the first years of life and appropriate anti-infectious prophylactic treatment significantly increases the overall survival. As the overall knowledge of the disease increases, also the recognition of patients with a delayed and more insidious onset increases. We report on the case of an Italian child with an exclusive gastrointestinal presentation, which led to a delayed diagnosis. We also document for the first time ultrastructural changes in the microvillous architecture in this syndrome.