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Schizophrenia and refractory anaemia with ring sideroblasts

A 29-year-old woman presented with severe anaemia, with a haemoglobin concentration of 6.6 g/dl, mean cell volume 86 fl, and a reticulocyte count of 2.7%. A blood film was leucoerythroblastic with hypochomia and basophilic stippling (left). Serum iron, serum ferritin and lactate dehydrogenase levels were increased. A bone marrow aspirate showed erythroid hyperplasia (82% erythroid cells) with dyserythropoiesis. Iron stores were increased and 87% of erythroid cells were ring sideroblasts. Cytogenetic analysis was normal. The patient was transfused but 3 weeks later developed neurological symptoms (headache, vomiting, reduced level of consciousness and left hemiparesis; magnetic resonance imaging and computed tomography scans showed a straight sinus thrombosis which was treated by endoscopic ventriculostomy and heparin. Five days later, she suffered intestinal blood loss and a gastro-oesophageal fibroscopy showed two oesophageal ulcers and metallic foreign bodies in the stomach. A mixture of rings, chains, collars and earrings (total weight 500 mg) was removed by gastrostomy (right). Serum lead was 9.34 lmol/l (normal: 0.24 lmol/l). A diagnosis of lead poisoning (saturnism) with secondary sideroblastic anaemia was made. Following treatment with ethylenediaminetetraacetic acid plus dimercaprol, the lead concentration fell to <0.43 lmol/l and the haematological picture became normal. However, the neurological lesions were irreversible.