Leucémie myélomonocytaire juvénile, xanthomes et neurofibromatose de type 1

The triple association of leukemia, xanthogranulomas, and type 1 neurofibromatosis was first described in 1958. Most leukemias were juvenile myelomonocytic leukemias (JMML), usually called juvenile chronic myelogenous leukemia. We describe a 22-month-old female child with neurofibromatosis 1, xanthomagranulomas, and a JMML. Her mother and her brother also had cutaneous cafe-au-lait spots. Our patient was treated with mercaptopurine and improved. However, 9 months later she experienced a blastic transformation. The presence of xanthomagranulomas and NF1 in a young child should alert to a possible development of JMML, especially in patients with a family history of NF1.