Retinal mass in a case of pediatric myelodysplastic syndrome (refractory anemia with excess of blasts).

PURPOSE: Myelodysplastic syndrome is a rare childhood clonal hematologic disorder characterized by dysplastic hematopoiesis and progression to leukemia.

METHODS

Case report.

RESULTS

An 8-year-old boy with low-grade fever, easy fatigability, and pallor of 3 months duration showed pancytopenia with 9% circulating blast cells. The bone marrow aspirate revealed striking trilineage dysplasia with 13% of blast cells. Cytogenetic analysis revealed 46, XY, del (20) (q11;q13). The findings were diagnostic of myelodysplastic syndrome with refractory anemia with excess of blasts in accordance with the World Health Organization criteria modified for pediatric age group. Fundus examination revealed a sickle-shaped hanging retinal mass of right eye. Biopsy/aspiration cytology of the retinal mass was not done in this case owing to risk of severe bleeding, a common feature in any hematologic malignancy. The child had been included in pediatric acute myeloid leukemia trials as the parents were not ready for stem cell transplantation, but he died after 3 months due to overwhelming infection.

CONCLUSIONS

Myelodysplastic syndrome of childhood may present with retinal mass along with other hematologic features. Biopsy/aspiration cytology of the mass should not be attempted as it may cause intraocular hemorrhage.