Basu Biswanath
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi - India.
Eur J Ophthalmol. 2010 May-Jun;20(3):618-20. doi: 10.1177/112067211002000317.
Myelodysplastic syndrome is a rare childhood clonal hematologic disorder characterized by dysplastic hematopoiesis and progression to leukemia.
Case report.
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.
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.
骨髓增生异常综合征是一种罕见的儿童克隆性血液系统疾病，其特征为造血异常并进展为白血病。
病例报告。
一名8岁男孩，低热、易疲劳、面色苍白3个月，全血细胞减少，循环原始细胞占9%。骨髓穿刺显示显著的三系发育异常，原始细胞占13%。细胞遗传学分析显示核型为46, XY, del (20) (q11;q13)。根据针对儿童年龄组修改的世界卫生组织标准，这些发现诊断为伴有过多原始细胞的难治性贫血型骨髓增生异常综合征。眼底检查发现右眼有镰状悬垂视网膜肿物。由于严重出血风险（这是任何血液系统恶性肿瘤的常见特征），该病例未对视网膜肿物进行活检/穿刺细胞学检查。由于父母未准备好进行干细胞移植，该患儿被纳入儿童急性髓系白血病试验，但3个月后因严重感染死亡。
儿童骨髓增生异常综合征可能伴有视网膜肿物及其他血液学特征。不应尝试对肿物进行活检/穿刺细胞学检查，因为这可能导致眼内出血。
