LAUSR

A 17-year-old female with Rett syndrome, epilepsy, respiratory insufficiency, and gastroparesis presented with anemia, neutropenia, and malaise. Family history was negative for copper deficiency. There was no history of copper chelating agent or zinc supplementation use. Physical examination revealed a pale, underweight female with tracheostomy and gastrostomy tubes. Laboratory examination demonstrated a white blood cell count of 1600/μL, hemoglobin of 7.1 g/dL, hematocrit 21.1%, platelets of 326,000/μL, reticulocyte count of 1.4%, mean corpuscular volume of 113 fL, and an absolute neutrophil count of 496/μL. Serum zinc, folate, vitamin B12, plasma homocysteine, and methylmalonic acid were normal. Bone marrow (BM) examination demonstrated a normocellular marrow with trilineage hematopoiesis (Fig. 1A). BM aspirate smears demonstrated cytoplasmic vacuolization (erythroid and myeloid) of precursors (Fig. 1B) which is seen in many disorders (Table 1). Other dysplastic or megaloblastic features were absent. Iron stain showed normal iron stores with rare ring sideroblasts (<5% of total erythroid cells). A karyotype and cytogenetic evaluation were unremarkable. On the basis of the clinical history and morphologic features of the BM aspirate, copper deficiency was considered. Laboratory evaluation revealed copper deficiency [a low serum copper (<10mcg/dL) reference range (75 to 187) and ceruloplasmin level (8mg/dL) (22 to 50)].