CLINICAL BRIEF Megaloblastic Anemia—A Rare Cause Sanjib Kr Debnath & Anju Aggarwal & Hema Mittal Received: 16 October 2010 / Accepted: 3 May 2011 / Published online: 1 June 2011 # Dr. K C Chaudhuri Foundation 2011 Abstract A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B 12 , folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia. Keywords Megaloblastic anemia . Orotic aciduria . Child Introduction Over the years incidence of megaloblastic anemia seems to be increasing. In developing countries, in most instances it is due to vitamin B 12 or folic acid deficiency [1]. Most of the children respond to vitamin B 12 or folic acid supplementa- tion [1]. Pernicious anemia due to intrinsic factor deficiency, malabsorption resulting in folate deficiency(celiac disease) and certain inborn errors of metabolism e.g. methylmalonic aciduria (B 12 deficiency) and methyl tetrahydrofolate reduc- tase deficiency (folate) account for minority of cases [1]. Thiamine responsive megaloblastic anemia, associated with sensorineural deafness and diabetes mellitus has been reported [2]. Disorder of pyrimidine metabolism, as a cause of megaloblastic anemia, is even rarer with only a few reported cases [3–5]. The authors report a rare case of megaloblastic anemia, due to orotic aciduria, a disorder of pyrimidine metabolism. Case Report Anemia in a boy was diagnosed as megaloblastic anemia at 6 months of age. It was assumed to be nutritional in origin. He was treated with B 12 and folic acid supplementation without measuring the levels, as these deficiencies are cause in majority of cases. He received blood transfusion at 7 months and 14 months. He was receiving iron therapy for 7 months. At 2 years of age, he presented with severe anemia and congestive cardiac failure. There was no history of persistent diarrhea, dysentery, pica, fever or any chronic illness. His diet was adequate in calories and proteins. There was no consanguinity. Antenatal or post natal history was not suggestive of inborn errors of metabolism. Spleen was palpable 1 cm below costal margin. His weight was 9.2 kg (expected 12.2 kg)and height was 73 cm(expected 87 cm), head circumference was 43.3 cm (<3rd centile). All develop- mental milestones were delayed. Child had hypopigmented sparse hair, strabismus was absent. Hearing was normal. Investigations at present admission revealed hemoglobin of 2.4 gm/dl(0.372 mmol/L), TLC3×10 9 /L,DLC (Lympho- cytes 62, Neutrophils 34, Eosinophil 2, Basophil 1, Monocyte 1) platelets 351×10 9 /L, RBC count 0.072× 10 12 /L and MCV of 98 fl, MCH 30.6 pg/ml(0.47 fmol/ cell), MCHC 32.2(4.99 mmol Hb/LRBC). Reticulocyte count was 1.5%. B 12 and folic acid levels were 1254 pg/ml (Normal 200–900 pg/ml) and >20 ng/ml (normal 5–20 ng/ml) respectively. Serum iron level was 64 μ g/dL (Normal 22– 184 μ g/dL) and ferritin level was 32 μg/L. Blood sugar was 101 mg/dl. Arterial blood gases were normal. Hemoglobin electrophoresis did not reveal any abnormality. Blood urea was 19 mg/dl and creatinine 0.7 mg/dl. Ammonia and lactate S. K. Debnath : A. Aggarwal : H. Mittal Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, New Delhi, India A. Aggarwal (*) Flat No. 3 C Block C2B Janakpuri, New Delhi 110058, India e-mail: aanju67@gmail.com Indian J Pediatr (October 2011) 78(10):1293–1295 DOI 10.1007/s12098-011-0461-6