Intestinal Behçet disease presenting as neonatal onset chronic diarrhoea in an 11-month-old male baby

Abstract

Behcet disease is characterised clinically by four major criteria (oral ulcers, genital ulcers, eye lesions, and skin lesions) and six minor criteria (gastrointestinal lesions, thrombophlebitis, cardiovascular lesions, arthritis, central nervous system lesions, and a positive skin pathergy test). We describe an infant with Behcet disease who presented with chronic diarrhoea and recurrent oral ulcers with onset in the neonatal period, which resulted in a prolonged interval between the disease onset and diagnosis. This male baby with a normal perinatal and birth history had non-bloody diarrhoea since the age of 2 weeks. The stools (>10 g/kg/day) were loose and mucoid with a frequency of 3–6 times a day, not responsive to semi-elemental formula feeding. At 3 months of age, the baby had poor body weight gain and anaemia. At the age of 7 months, the baby began experiencing recurrent oral ulcers with fever, which was diagnosed as recurrent herpangina. His body temperature was around 38 C-39 C all day. He was transferred to our hospital at 11 months of age. The physical examination revealed a low body weight (7.7 kg, below the 3rd percentile). One single oral ulcer on the soft palate, and one perianal pustule were noted (Fig. 1A). Maculopapular skin rashes were noted intermittently. High C-reactive protein (27.4 mg/dl) and ESR (45 mm/h) levels were noted. Food allergy tests showed no specific allergy. IgG, IgA, IgM, lymphocyte subset profile, mitogen response and chemoluminesence, C3, C4, antinuclear antibody levels all showed nonspecific findings. Anti-human immunodeficiency virus antibody was non-reactive. Colonoscopy performed at age 13 months showed multiple ulcerations in the whole colon (Fig. 1B). Biopsy revealed a marked neutrophil infiltration in the lamina propria and peri-arterioles. No cryptitis, crypt distortion, or granuloma was noted (Fig. 1C). Ophthalmological examination was normal. HLA-B51 (B5) antigen was negative. Prednisolone (15 mg/day) was given from the age of 14 months and then tapered gradually for 4 months. The body weight caught up to the 50th percentile (Fig. 2). Diarrhoea and anaemia were corrected. Follow-up colonoscopy study at 17 months of age showed a normal appearance. During 3 years of followup, another two episodes of blood-stained diarrhoea, abdominal discomfort with fever and recurrent oral ulcers of the buccal mucosa were observed. Erythematous nodules were noted on the penis and scrotum during further two attacks. The symptoms responded to shortterm prednisolone. C-reactive protein level and ESR were elevated during these episodes (CRP 10.5 mg/dl, ESR 72 mm/h). Juvenile Behcet disease accounts for 3%–7% of all cases of Behcet disease [4]. The rate of intestinal involvement was 68.8% in cases of Japanese children, which was higher than that of adults (16%) [7,10]. Oral lesions and gastrointestinal involvement occur in 31.8% of adult patients. There have been very few reports of Behcet disease in Taiwan [1]. The clinical characteristics of patients differ from those in other Asian countries suggesting that geographic and genetic factors are important in the pathogenesis of the disease [1]. The symptoms of our patient, such as abdominal pain, bloody stools and anal lesions, were similar to those of intestinal Behcet cases in Japan, except for the earlier age at disease onset [4]. A large overlap of clinical manifestations exists between Crohn disease and intestinal Behcet disease including fever, growth failure, oral aphthous ulcers, erythema nodosum, chronic nonspecific inflammatory changes throughout all segments of the gastrointestinal tract and radiological findings [3, 5,9]. Clinical features more favourable to the diagnosis of intestinal Behcet P.-S. Wu AE H.-L. Chen (&) AE Y.-H. Yang P.-I. Lee AE M.-H. Chang Department of Paediatrics, National Taiwan University Hospital, 7F No.7 Chung-Shan S Road, 100 Taipei, Taiwan E-mail: hueyling@ha.mc.ntu.edu.tw Tel.: +886-2-23123456 ext 5148 Fax: +886-2-23934749