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SUMMARY We report a case of congenital isolated malabsorption of folic acid, the first in a boy. Only seven previous cases have been reported, and we discuss two aspects-namely, the tendency to infection, with evidence of impairment of both cellular and humoral immunity, and the absence of neurological disturbances.Congenital isolated malabsorption of folate is a rare and specific disorder, causing megaloblastic anaemia in early childhood, which can be corrected by administering very high doses of folic acid orally or by parenteral administration of physiological doses. The case reported here is the first in a boy.Two additional aspects will be emphasised: our patient (a) showed no neurologic disturbances and (b) suffered from a tendency to infections apparently due to partial immunodeficiency. The most striking clinical disturbance was severe and chronic anaemia during the fifth and sixth months of life, with haemoglobin concentrations ranging from 4*5 to 9*2 g/dl and packed cell volume between 15% and 29% and with mean corpuscular volume of 100 u3. The peripheral blood smears showed macrocytosis and hypersegmentation of polymorphonuclear cells; the leucocyte count was in the range of 7000-12 000 mm3 and thrombocytes 100 000-200 000/mm3, with reticulocytes 0*2-1-0%. Coombs tests yielded negative results, and both a Motulsky test and electrophoresis of haemoglobin showed normal results. These data together with the macrocytosis found in the peripheral blood smear were compatible with a diagnosis of megaloblastic anaemia, which was confirmed by the findings of megaloblastic changes in the bone marrow.The megaloblastic anaemia was found to be due to folic acid deficiency, as indicated by the low concentrations of folic acid in red blood cells (15-50 ng/ml, while the normal value is above 250 ng/ml), serum (<1 ng/ml, while normal is above 5 ng/ml), and cerebrospinal fluid (<1 ng/ml, while normal is 15 ng/ml), Blood concentrations of vitamin B12 were 700-800 pg/ml and urine orotic acid concentration was normal too. The folates were determined by the microbiologic assay of Grossowicz et al,' using Lactobacillus casei as test organism. The diet of the mother during lactation and the child's diet were found to be normal; the possibility of dietary folate

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