P14 Blueberry muffin syndrome secondary to acute myeloid leukaemia: a learning point

Abstract

Abstract A baby was initially referred at 6 weeks developing multiple erythematous, bruise-like and light-brown subdermal lumps over the head, face, arms, legs and buttocks. She had been born following breech presentation by elective C-section, which had been complicated by trauma and blood loss. No other clinical concerns were raised at this time. Nonaccidental injury was considered; however, subcutaneous fat necrosis of the newborn was the diagnosis made by paediatric team following slightly raised calcium and suggestive ultrasounds features. Newer lesions continued to arise in the same areas over 6 weeks, now with difficulty in feeding and irritability. One small cervical lymph node could be palpated. This was atypical for subcutaneous fat necrosis of the newborn and an urgent dermatological option was sought. On review, the lesions were clinically in keeping with an infiltrative process (blueberry muffin syndrome) and an urgent skin biopsy, blood film and TORCH screen were requested. A 4-mm punch biopsy confirmed leukaemia cutis with evidence of myeloid differentiation. MLL (KMT2A) rearrangement was detected, which was also subsequently found on a bone marrow sample. A peripheral blood film identified a population for NG2-positive myeloid blasts (6%), raising the possibility of infant acute myeloid leukaemia (AML). A TORCH screen did not highlight any congenital infections. The baby was promptly commenced on chemotherapy for AML. This case highlights how presentation can be atypical, the importance of reviewing possible diagnoses and considering an early biopsy to enable prompt treatment if required.