Central Diabetes Insipidus: An Unusual Complication in a Child With Juvenile Myelomonocytic Leukemia and Monosomy 7

Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.postprin

Challenges in the management of juvenile myelomonocytic leukaemia in Hong Kong over the past two decades

Juvenile myelomonocytic leukaemia (JMML) is a rare myeloid malignancy of childhood. The diagnosis and treatment of this disease still remain as major clinical challenges. We aim to describe the clinical and pathological findings, as well as treatment outcomes of eight patients with JMML who received treatment in two hospitals in Hong Kong between 1993 and 2011. One patient with Noonan syndrome showed spontaneous resolution of disease. Four patients underwent allogeneic haematopoietic stem cell transplantation during 1996 to 2007. Three of them died of post-transplant relapse and refractory disease or transplant-related toxicity. The surviving transplanted patient had chronic graft-versus-host disease for 4 years, and eventually showed evidence of disease relapse with documented mixed chimerism. The other three patients who received supportive treatment were alive with persistent disease. Our future works should focus on optimising therapy and improving treatment outcome for JMML patients.link_to_OA_fulltex