Orbital Myeloid Sarcoma as the Initial Presentation of Acute Myeloid Leukemia With Maturation in a Pediatric Patient: A Case Report

Acute myeloid leukemia (AML) is primarily a disease of adulthood but can also occur in children. Myeloid sarcoma (MS) is an uncommon extramedullary manifestation of AML, and orbital involvement is considered particularly rare, especially in pediatric cases. We report a case of a four-year-old girl from Gaza who developed progressively worsening bilateral orbital swelling and ptosis over four months. Initial assessments, including an eyelid biopsy performed in Gaza, suggested a possible diagnosis of lymphangioma or rhabdomyosarcoma. However, limited access to advanced diagnostic resources and delays in cross-border referral significantly impacted definitive diagnosis. When she was finally referred to Jordan, advanced imaging revealed extensive bilateral retro-orbital masses, severe proptosis, and orbital wall erosion. Histopathological analysis confirmed that MS and bone marrow studies identified AML with maturation (French-American-British classification subtype M2 (FAB-M2)) and the translocation of t (8;21). Despite undergoing three cycles of chemotherapy, she tragically passed away just four months after diagnosis due to complications including encephalopathy and severe infection. This case highlights the aggressive nature of orbital MS in pediatric AML and the critical role of timely access to advanced medical care. It also highlights the devastating impact of healthcare inequities in conflict zones, where diagnostic and treatment delays can significantly worsen outcomes.