Facial Lesions as an Early Manifestation of Acute Leukemia in a Child With Down Syndrome: A Case Report

TL;DR

A child with Down syndrome showed facial swelling due to acute leukemia, highlighting the need to consider rare symptoms in diagnosis.

Contribution

This case report highlights facial lesions as an unusual early sign of acute leukemia in children with Down syndrome.

Findings

Facial swelling and periorbital cellulitis can be early signs of acute myeloid leukemia.

Extramedullary myelosarcoma should be considered in persistent soft tissue swelling unresponsive to standard treatments.

Down syndrome may be associated with atypical presentations of leukemia.

Abstract

A 19-month-old female with Down syndrome presented with recurrent left cheek swelling and left eye involvement, initially diagnosed as fasciitis/myositis and periorbital cellulitis. Despite empiric antibiotics, symptoms persisted. A whole-body CT scan revealed prominent lymph nodes, and a biopsy of the buccal mass showed myeloid sarcoma. Bone marrow aspiration confirmed acute myeloid leukemia. Following chemotherapy, the patient's symptoms resolved. This case underscores that acute leukemia may manifest as facial swelling or periorbital cellulitis, highlighting the importance of considering extramedullary myelosarcoma in cases of persistent, unexplained soft tissue swelling that does not respond to standard treatments.

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