Ghazala Mumtaz, Akbar Malik, Sajid Maqbool.
Congenital Myeloid Leukaemia.
Proceeding Shaikh Zayed Postgrad Med Inst Jan ;14(1):37-8.

Rare things are rare but they do occur. We present here a case of congenital myeloid leukaemia who presented with massive hepatosplenomegaly without other manifestations at the time of diagnosis.

Case Report: A two month old male child presented with progressive abdominal distension since birth. This baby was born by spontaneous vaginal delivery (SVD) following full term unremarkable pregnancy. According to the mother he was a weak child at birth. There was no history of jaundice, fits, fever, vomiting, diarrhea or constipation. Baby was breast fed, had social smile and horizontal visual gaze. He was the 3rd issue from a consanguinous marriage with one healthy 3 years old sister and one intrauterine death (IUD) of a male child 2 years back. Examination revealed a 4.5 kg healthy looking baby with normal anthropometric data without any dysmorphism. He was moderately anaemic and the anterior fontanella was open. The abdomen was protuberant with everted umbilicus, liver was palpable 4 cm below the costal margin in mid clavicular line, firm in consistency with a smooth surface. Spleen was 8-10 cm firm with a palpable notch heading towards the left iliac fossa. No free fluid was detected in the peritoneal cavity. A differential diagnosis of congenital intrauterine infections, storage disease and congenital leukaemia was considered, and appropriate tests ordered. On laboratory investigations, blood glucose was 77 mg/dl, bilirubin 1.4 mg/dl, ALK P04 U/L with normal BUN, creatinine and serum electrolytes. Ophthalmological examination was negative for cherry red spot or any other intraocular abnormality. Ultrasound examination confirmed hepatomegaly and marked enlargement of spleen. No obvious lymph node enlargement was detected. A peripheral blood smear revealed (along with Hb of 8.5 g/dl), TLC 63x109/1, with poly 31, lymphos 31, mono 08, eosinophils 3, basophils 1, bands 7, myelocyte 7, metamyelocyte 8, promyelocyte 1, mononuclear cells 3, few nucleated red cells seen with marked degree of shift to the left and platelets 72,000/cm. Bone marrow aspirate from tibial tuberosity showed hypercellular smear and fragments. Erythropoiesis was active and normoblastic. Myelopoiesis was hyperplastic with mature forms increased i.e. myeloblasts, myelocytes and metamyelocytes, megakaryocytes were increased in number, lymphos were prominent of mature type. No extramedullary cells were seen. A diagnosis of chronic (congenital) myeloid leukaemia was confirmed.

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