1Dipartimento di Promozione della Salute, Materno-Infantile, di Medicina Interna
e Specialistica di Eccellenza “G. D’Alessandro”, Scuola di Specializzazione
in Pediatria, Università di Palermo
2UOC di Pediatria, AO “Ospedali Riuniti Villa Sofia-Cervello”, Palermo
Indirizzo per corrispondenza: firstname.lastname@example.org
Key words: Chronic granulomatous disease, Crohn’s disease, Very early-onset IBD, Anal abscess
Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocyte oxidative metabolism that, in addition to infectious complications, is characterized by abnormal inflammatory response leading to the formation of granulomas in multiple tissues both in the presence and absence of microorganisms. Inflammation often involves the gastrointestinal tract and the clinical, laboratory, and histological characteristics are hardly distinguishable from Crohn’s disease (CD). CGD is indeed a rare but important differential diagnosis of chronic inflammatory bowel disease (IBD) especially when occurring in early life and its early detection is crucial to improve the prognosis. The paper reports the case of a 2-year-old boy who had a clinical presentation mimicking Crohn’s disease with anal abscess, falling off the growth curve, elevated inflammatory parameters, and iron deficiency anaemia, whose diagnosis proved to be CGD.
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