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

TL;DR

A four-year-old girl from Gaza presented with orbital myeloid sarcoma as the initial sign of acute myeloid leukemia, highlighting the disease's severity and the impact of delayed diagnosis in conflict zones.

Contribution

This case report presents a rare pediatric instance of orbital myeloid sarcoma as the initial manifestation of AML with maturation and t(8;21) translocation.

Findings

Orbital myeloid sarcoma was confirmed as the initial presentation of AML with maturation in a four-year-old girl.

The patient's condition worsened due to delayed diagnosis and limited access to advanced care in a conflict zone.

The case underscores the aggressive nature of orbital MS in pediatric AML and the importance of timely diagnosis and treatment.

Abstract

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.

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