抄録
Recently we were visited by a 34-month-old boy who was suffering from megaloblastic anemia.
He was pale and had lost his appetite but he had no jaundice, no bleeding tendency and no diarrhea. His development was almost within normal limits.
His parents are consanguineous, but no remarkable disease related was found in their families and siblings.
Diagnosis of megaloblastic anemia, caused by vitamine B12 deficiency, was made by high urine MMA value, low serum vitamin B12 value and a remarkable increase of reticulocytes following parenteral administration of vitamine B12.
Histological examination revealed no abnormality in the biopsy specimens of the stomach, jejunum and ileum.
Gastric juice was normal, containing the intrinsic factor. No antibodies against intrinsic factor and parietal cell antibodies were found in the serum.
Schilling tests were performed with or without intrinsic factor during the period of anemia and at the time of remission. Besides, it was done by the administration of the normal duodenal juice of adult. The tests proved to be negative in each of the five examinations.
The endocrinological function tests, and absorption tests for sugar, amino acid and fat were normal.
No abnormality was found in the renal function test, except positive protein in the urine.
The present case is thought to represent the selective vitamine B12 malabsorption with benign proteinuria, and the first case reported in Japan.
