IBD and IBD mimicking enterocolitis in children younger than 2 years of age

Abstract

Inflammatory bowel disease (IBD) is uncommon in children younger than 2 years of age. The criteria for differentiating IBD from other diseases with similar clinical presentation is unclear. We describe 16 patients who, between 1984 and 2004, received a histological diagnosis of IBD during the first two years of life. Six patients presented with histological Crohn's disease, eight with ulcerative colitis and two with indeterminate colitis. The median age at diagnosis was 125 days (range 1 day to 18 months) and the medium follow up was 89 months (range 65 days to 20 years). The disease appeared to be very severe: four children (25%) underwent total parenteral nutrition (TPN), two received colectomy (12.5%) and three patients died. Many of the patients required an aggressive, multidrug, immunosuppressive approach (azathioprine [AZA], Infliximab, thalidomide, cyclosporine A). One child presented with a hypogammaglobulinaemia without any specific immunodeficiency, while in the other patients, Wiskott-Aldrich syndrome (WAS) (4 cases) and chronic granulomatous disease (CGD) (2 cases) were identified. In 6/16 cases, allergic colitis was first considered; these cases initially underwent cow's milk protein-free diet as the only therapy before IBD was finally diagnosed. In conclusion, early IBD has a severe prognosis and often needs an aggressive therapeutic approach. Furthermore, an improper diagnosis of allergic colitis might cause an important diagnostic delay. Some severe immunodeficiencies, such as WAS and CGD, may represent a problem in terms of differential diagnosis and might be wrongly diagnosed as very early onset IBD.

Colitis ulcerosa en un niño de 20 meses: a propósito de un caso

“…E n l o s l a c t a n t e s y n i ñ o s p e q u e ñ o s , el diagnóstico de EII incluye, casi siempre, afecciones asociadas con inmunodeficiencias como enfermedades granulomatosas crónicas, síndrome de Wiskott-Aldrich, síndrome IPEX, inmunodeficiencia variable común y deficiencia de IL-10. [9][10][11][12] En el caso que presentamos aquí, se hicieron análisis de sangre para identificar las concentraciones de inmunoglobulina y no se observó linfopenia ni granulopenia. Estos resultados, sumados a los antecedentes d e l p a c i e n t e , p e r m i t i e r o n d e s c a r t a r l a s inmunodeficiencias como causa posible.…”

Gastrointestinal Abnormalities among Patients with Chronic Granulomatous Disease

“…Because of the frequent GI manifestations, patients are often initially evaluated and managed by care providers, who may not be aware to the possibility of an underlying primary immune deficiency. Moreover, several reports identified patients with abnormal neutrophil superoxide generation as suffering from inflammatory bowel disease [2,7,14,15,34,35]. Clues to the correct diagnosis include the very early age of presentation, which is uncommon among patients with inflammatory bowel disease, the presence of extra-intestinal infections typical of CGD and histological features such as pigmented macrophages and granuloma [7,36,37].…”

Interleukin-10 receptor deficiency in a Polish paediatric patient with early onset inflammatory bowel disease

“…A distinct phenotype of EO-IBD is described, with a high familial aggregation in UC and greater tendency to develop colonic disease [4]. In different studies, young age at diagnosis was described as a predictive parameter of a complicated disease course [11], and of an increased risk for future immunosuppressive therapy [12], surgery, and recurrence rates [13].…”

“…Therefore IBD developing during the first years of life (under the age of 5) is classified as an early-onset IBD (EO-IBD) and it is considered to be a specific entity with a distinct phenotype [3]. The disease manifestations are primarily colonic, with severe perianal disease, and severe extra-gastrointestinal manifestations [4,5]. The EO-IBD usually has very severe manifestations and an uncertain prognosis with life-threatening symptoms, and needs an aggressive therapeutic approach [5].…”