Juvenile Myelomonocytic Proliferation: A Diagnostic Dilemma

This article reports a case of juvenile myelomonocytic proliferation. Juvenile Myelomonocytic Proliferation is an entity that includes many disorders like reactive myelomonocytic proliferation after viral sequelae, myelomonocytic proliferation associated with genetic syndromes like Noonan's syndrome and leukaemia like juvenile myelomonocytic proliferation. It mainly affects paediatric population. This case reports a similar case in a 4 year old female child who presented with generalised weakness and distention of abdomen since 15 days. She was referred from a private hospital as she was not responding to symptomatic management. On examination, patient in our centre had pallor, hepatosplenomegaly and inguinal lymphadenopathy. A complete blood count revealed Haemoglobin-5.5gm/dl, TLC-1,77,000/ul, Platelets-14000/ul. Peripheral smear with flow cytometry was reported as juvenile myelomonocytic proliferation. The patient did not have any phenotypic findings that could suggest syndromic associations. Based on above laboratory findings this was thought to be a case of juvenile myelomonocytic leukaemia and patient was given two units of Packed red cells (PRCs) for improving haemoglobin level and tablet hydroxyurea and allopurinol and IV Rasburicase with the intent of cytoreduction. Unfortunately, patient deteriorated clinically and hence further workup was not possible as the patient succumbed to death due to haemorrhagic shock following disseminated intravascular coagulation. Hence a detailed and timely evaluation of juvenile myelomonocytic proliferation is paramount for accurate diagnosis and appropriate management.