A 16-year-old schoolgirl was referred from her school doctor to the internist at the hospital for diarrhea and abdominal pain. Since childhood she had had troublesome bowels with meteorism. The last six months she had developed a diarrhea with 5-6 bowel movements per day. Her weight was stable. The physical examination was normal including rectoscopy. The blood tests included a normal hemoglobin, cobalamin 121 pmol/L (ref 110-650), and normal folate.
Due to the somewhat low cobalamin, celiac disease was suspected. Celiac disease has a high prevalence in Sweden. Further examination with antibodies against gliadin and endomysium was however normal, and so was gastrin and antibodies against parietal cells. A biopsy specimen from rectum showed a slight inflammation and an ileocolonoscopy was performed. The bowel was endoscopically normal, but biopsies revealed a slight inflammatory reaction with eosinophilic dominance.
Allergic reaction to food allergens was suspected, and she was tested with skin tests and serologic tests for a variety of foodstuffs with negative outcome. IgE was normal. The examinations were extended with negative small bowel x-ray, chromogranine, porphyria tests, triolein and lactose tolerance tests. Homocysteine was 8 micromol/L ( ref 5-18).
Her bowel movements had slowly increased to more than 10 per day and she had abdominal cramps, interfering with her schoolwork. Symptomatic treatment with cisapride, metronidazole, cholestipole was without effect.
A new colonoscopy was performed at the age of 17 years. It was endoscopically normal, but histology again showed a slight inflammatory response, with mainly eosinophils. The basal membrane had normal thickness. In peripheral blood there was no eosinophilia.
Eosinophil enteritis of unknown cause was suspected and systemic steroid treatment started. She was immediately free from symptoms, but could not tolerate tapering off the dose due to recurrence of diarrhea. Budesonide treatment was effective and planned to continue.
At the age of 19 her serum cobalamin had decreased to 75. Homocysteine was 11,6 and metylmalonate 0.33 micromol/L ( ref < 0.42 ) and mean corpuscular volume normal. She was recommended gastroscopy, but was at that stage rather tired of doctors and all their investigations, so she refused. Intramuscular substitution with hydroxocobalamin was started. After a few months she reported that she felt free from the overwhelming fatigue that she had felt for the last four years. She continued to be free from abdominal symptoms.
In conclusion I think that she has low-grade eosinophilic enteritis of uncertain cause. After some years a cobalamin deficiency developed. Maybe the inflammatory process causes a state of malabsorbtion. I cannot explain the normal findings of homocysteine and methylmalonate. Can anybody help me?
Updated januari 16, 2000