Galactorrhoea and amenorrhea as first symptoms of acute myeloid leukaemia: a case report and literature review.
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BACKGROUND: Acute leukaemia is typically identified through clinical signs of cytopenia and/or a tumour syndrome, while paraneoplastic syndromes are rare in this context. We report a unique case of a 10-year-old girl who initially presented with inflammatory joint pain, night sweats, weight loss, amenorrhea, breast swelling, and galactorrhoea. OBSERVATION: At diagnosis, she had an elevated prolactin (PRL) level (260.5 μg/L, reference < 25 μg/L) and biological evidence of hypogonadism. Blood counts revealed anaemia, thrombocytopenia, and 11 % circulating blasts. Bone marrow aspiration confirmed acute leukaemia, classified as FAB M5, with a KAT6A:CREBBP fusion transcript. DISCUSSION: Cerebrospinal fluid analysis was negative for blasts, and brain magnetic resonance imaging showed no leukemic infiltration of the pituitary gland or a concomitant pituitary tumour. PRL level normalized following chemotherapy. CONCLUSION: In the absence of central nervous system involvement, ectopic PRL secretion by leukemic blasts appears to be the most plausible explanation for the elevated PRL levels in this case.