Introduction: In acute myeloblastic leukaemia (AML) explosive proliferation and accumulation of immature myeloid cell clones take place, replacing the bone marrow, with the possibility of the formation of extramedullary tumour masses composed of myeloid cells. The onset of the disease less frequently consists of symptoms of extramedullary manifestation.
Case presentation: A Caucasian male child aged three years and 11 months was hospitalized for bilateral exophthalmos and otorrhea, due to an alteration in his general condition. Ocular ultrasound revealed an inhomogeneous thickening of the upper right muscles superior to the eyeball. A complete blood count showed severe anaemia, leucocytosis with neutropenia and thrombocytopenia. A peripheral blood smear evidenced myeloblasts. The result of the cytology of bone marrow confirmed the diagnosis of AML. Following blood product replacements and cytostatic treatment (AML-BFM 2004 HR protocol), the remission of exophthalmos and the correction of haematological parameters were favourable.
Conclusion: In a child with a sudden onset of exophthalmia and altered general condition, the diagnosis of acute leukaemia should be considered. The importance of performing a peripheral blood smear and bone marrow examination is emphasized so that diagnosis and initiation of treatment are not delayed.