A 14-year-old Filipino girl entered the Kapiolani Medical Center for Women and Children with a five-month history of substernal chest pain and increasing dysphagia. She had a documented 7 kg weight loss during the illness. She suffered intermittent fever to 40°C. Aphthous mouth lesions developed in the patient one week before admittance. She denied having nausea, vomiting, diarrhea, gastrointestinal tract bleeding, skin lesions, and arthralgia. Family history was negative for gastrointestinal diseases. A sister had been recently diagnosed with systemic lupus erythematosus(SLE).
Physical examination was remarkable only for evidence of malnutrition with her weight-to-length ratio being less than the 5th percentile. She had no oral nor genital ulcerations. Abdominal examination was unremarkable. Digital examination of the rectum yielded stool which contained occult blood. There were no skin lesions. She was mildly anemic with a hemoglobin of 10.5 gm/dl. Her white blood cell count was 5,000/MM3 with 29% band forms and 42% segmented neutrophils. Her chemistry profile was normal, but the serum iron was depressed.
Upper gastrointestinal endoscopy revealed deep ulcerations with undermining of the edges 25 cm from the teeth (Fig. 1), extending in a longitudinal, serpentine fashion into diffusely inflamed mucosa which ended at a stricture in the distal esophagus. Esophageal mucosal biopsies revealed severe inflammatory changes; no viral inclusions nor granulomas were observed. Viral cultures were negative. Serological testing for HIV, herpes simplex virus, and cytomegalovirus were negative. A pharyngeal culture was negative for herpes virus. Examination of her eyes revealed no abnormalities. Contrast radiography of the upper gastrointestinal tract and small intestine revealed a 10 cm area of ulceration with distal stricture (4 mm diameter) in the esophagus, and no radiographic abnormalities in the stomach, duodenum or small intestine (Fig. 2). The patient continued to demonstrate fever and a decreasing hemoglobin over the ensuing two weeks. Her albumin fell to 3.1 gm/dl.
This patient's esophageal pathology most likely represents:
- A: Epidermolysis bullosa
- B: Cytomegaloviral esophagitis
- C: Crohn's disease
- D: Adenocarcinoma
- E: Behcet disease
Answer: Presumed Crohn's disease. There were no skin lesions suggestive of epidermolysis bullosa and no genital or eye findings to support a diagnosis of Behcet disease. No specific evidence was found to support a viral infection. There was no evidence of immunodeficiency. The patient was placed on prednisone and nutritional support. She was free of chest pain one week later. A relapse eight months later responded to prednisone, and 6-mercaptopurine was added. The prednisone was subsequently tapered with no recurrence of chest pain or fever. The stricture was treated by repeated steroid injections followed by balloon dilations. This allowed her to eat soft foods. There was no endoscopic evidence of active inflammation at the stricture-dilation sessions.
Comments: Crohn's disease of the esophagus without intestinal involvement is highly unusual but this patient's presentation is typical. Granulomas are found on endoscopic biopsies in 30% of cases. Strictures are common and fistulas have been reported. The incidence of esophageal lesions has increased as esophagogastroduodenoscopy has been performed during the initial evaluation of patients with suspected inflammatory bowel disease.