Congenital Acute Lymphoblastic Leukaemia with Hyperleucocytosis in a Full-Term Neonate: A Case Report

Congenital leukaemia is a rare neonatal malignancy (<1% of childhood leukaemias) that often presents with nonspecific signs such as hepatosplenomegaly, skin lesions, and haematological abnormalities, making diagnosis challenging.

We report a 25-day-old full-term female neonate with fever, multiple subcutaneous nodules, bruising, petechiae, and hepatosplenomegaly. Laboratory investigations demonstrated extreme hyperleukocytosis, severe anaemia, thrombocytopenia, elevated lactate dehydrogenase, and hyperuricaemia. Peripheral blood smear revealed numerous lymphoblasts. Flow cytometry confirmed B-cell precursor acute lymphoblastic leukaemia. The patient received supportive care and was subsequently referred for chemotherapy. However, she died shortly after transfer.

Congenital leukaemia should be considered in neonates with unexplained hepatosplenomegaly, skin lesions, pallor, and marked leucocytosis. Early peripheral blood smear evaluation and immunophenotyping are essential.