Pre-B-cell acute lymphoblastic leukemia presenting as an orbital mass in an 8-month-old.

PURPOSE

To present the case of an 8-month-old girl with undiagnosed pre-B-cell acute lymphoblastic leukemia (ALL) presenting as an orbital mass.

DESIGN

Observational case report and literature review.

METHODS

Review of clinical history, radiologic findings, histology of cervical lymph node and orbital biopsies, and follow-up.

RESULTS

An 8-month-old girl presented with a 2-week history of right-sided tearing, lid swelling, proptosis, and rhinorrhea. A computed tomographic scan of the orbits revealed a homogeneous, retrobulbar orbital mass eroding into the ethmoid sinuses and nasal cavity, as well as cervical lymphadenopathy. Biopsy of the lesion and enlarged lymph node disclosed medium-sized, uniform, cytologically atypical lymphocytes in a starry sky pattern. Immunohistochemical analysis showed reactivity to antibodies against CD-10, CD-19, CD-34, and terminal deoxynucleotidyl transferase. Cytogenetic analysis of the tumor also revealed a gene rearrangement on chromosome 11q23. Based on these findings, the diagnosis of pre-B-cell acute lymphoblastic leukemia was made, and systemic as well as intrathecal chemotherapy was instituted, which resulted in rapid remission of the leukemia.

CONCLUSIONS

The initial presentation of ALL as an orbital mass is exceedingly rare. To the best of the authors' knowledge, this is the earliest reported case of pre-B-cell ALL presenting as an orbital lesion.