A 15 year old girl with Rett syndrome requiring percutaneous endoscopic jejenostomy (PEJ) for feeds and medications (anti-epileptics and zinc supplements for historical zinc deficiency) presented bi-cytopenic. Hb was 72g/L (120 – 160), with a borderline low MCV 80fL (80 – 97), low MCH 24.5pg (27 – 34) with a neutrophil count of 0.26 x 10⁹/L (2.0 – 8.0) and a platelet count of 345 x 10⁹/L (150 – 400). Bone marrow aspirate demonstrated left-shifted erythropoiesis and prominent cytoplasmic vacuolation of pro-erythroblasts and dyserythropoiesis of late erythroblasts.  Myelopoieis was reduced in amount and left-shifted with prominent cytoplasmic vacuolation of pro-myelocytes and myelocytes.

Zinc levels were increased 18.9 umol/L (9.2 – 15.4) and copper levels reduced 3.4 umol/L (11.3 – 25.2) with normal ferritin of 127ug/L.

Intravenous copper replacement was commenced with normalisation of her Hb, red cell indices and neutrophil count. Repeat bone marrow aspirate demonstrates resolution of the above changes.