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Pernicious anemia (PA) with coexistent transitory intestinal malabsorption of vitamin B12 has been documented in adults. This report is the first description of proven transitory selective intestinal malabsorption of vitamin B12 in congenital PA. A vitamin B12 responsive anemia was demonstrated in the patient, a 2 ½-year-old girl, by change in the bone marrow from megaloblastic hyperplasia to normoblastic hyperplasia 48 h after 5 μg of vitamin B12. No intrinsic factor (IF) was found in gastric fluid by in vitro assay before and again 4 and 6 weeks after therapy. Congenital PA was established by the age of the patient, absence of IF in gastric fluid, lack of antibodies to IF and parietal cells, presence of HCl in gastric fluid, and normal gastric biopsy. The xylose tolerance test, 72 h fecal fat determination, upper GI series, and biopsy of the jejunum were normal, but the Schilling test was abnormal with hog IF of known potency on two occasions, indicating selective malabsorption of vitamin B12. Six months after therapy the Schilling test was still abnormal without IF, but was normal with both human and hog IF. This normal absorption with IF after therapy is indicative that selective malabsorption was originally present, probably as a consequence of the vitamin B12 deficiency resulting from IF lack. In patients with abnormal radioactive vitamin B12 absorption tests with administration of IF, coexistent PA must be excluded by demonstration of IF in gastric fluid. (SPR)

54 Congenital Pernicious Anemia with Coexistent Transitory Intestinal Malabsorption of Vitamin B12