Study objective: besides iron deficiency and alpha thalassemia, congenital microcytic hypochromic anemia is rare. We present an unusual case in an infant with mild facial dysmorphy.

Methods, case: laboratory tests were performed at HUG with standard methods. Born at term the female infant demonstrates a generalized hypotonia with swallowing deficiency severe enough to require forced enteral feedings until 4 months of age. Facial peculiarities include a bulbous nose, large ear pinnae, a bifid uvula. Neuro-intellectual development is subnormal at 21 months, with a progressive growth impairment. No family history of anemia, retardation or dysmorphism.

Laboratory results: at birth, Hb 108 g/l (N=145-225), MCV 72 fl(N=95-121), MCHC 25 (N=29-37) with 28×109 reticulocytes/l(N=120-460). Blood smear: microcytosis, hypochromia, anisocytosis. Bone marrow exam (1 month); presence of early erythroblasts with non-vacuolated ring sideroblasts, absence of erythrocytic maturation; normal other lineages. Intermittent thrombocytosis. Normal iron status. Absence of alpha thalassemia(DNA analysis, absent Bart Hb). Normal chromosomes and pancreatic function tests.

Evolution: despite occasional reticulocytosis (3-280 × 109/l, N=20-80 × 109), the infant is transfusion dependent, unresponsive to iron, pyridoxine, thiamine, erythropoietin and prednisone. Her intellectual, neurological and physical development at 21 months lags by 6 months.

Conclusions: this patient constitutes a new, severe, congenital hypoplastic sideroblastic anemia, with microcytosis and hypochromia; abnormal features include delayed physical, neurological and intellectual growth, transient muscular hypotonia and a peculiar facies. This syndrome differs from Pearson syndrome by the lack of pancreatic insufficiency, the moderate dysmorphic features, and the constant hypochromia-microcytosis.