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Korean J Pediatr Hematol Oncol. 1998 Oct;5(2):322-327. Korean. Original Article.
Cho TH , Kook H , Ryu NE , Kim CJ , Lee JH , Hwang TJ .
Department of Pediatrics, Chonnam University Medical School, Kwangju, Korea.
Department of Pathology, Chonnam University Medical School, Kwangju, Korea.

PURPOSE: Fanconi anemia(FA) is a rare autosomal recessive disorder characterized by progressive bone marrow failure and congenital malformations. Patients with FA have aplastic anemia(> 90%), leukemia(10~15%), myelodysplasia(5%) and liver(5%) and other tumors(5%). In the International FA Registry study myelodysplasia in FA patients was detected at a median of 13 years. Presentation of FA with myelodysplasia in an infant should be extremely rare. CASE: A 3-month-old infant presented with anemia and poor feeding. The initial hemogram showed: hemoglobin, 4.6 g/dL; MCV, 104.1 fL/pg; white cell count, 4,300/microL; neutrophils, 450/microL; platelets, 23,000/microL. The bone marrow was normocellular, with findings of macrocytic anemia and dyserythropoiesis, and less than 5% of myeloid blasts, compatible with myelodysplastic syndrome(refractory anemia). The patient had multiple cafe-au-lait spots, hypopigmented nevi, broad nasal bridge, micrognathia, and thumb and toe anomalies. FA was confirmed by chromosomal hypersensitivity to diepoxybutane and mitomicin C. Supportive treatment with oxymetholone and prednisolone failed to improve hematologic and clinical findings. The patient succumbed to sepsis, pneumonia and meningitis due to Pseudomonas aeruginosa at 20 month of age. Clonal cytogenetic anomalies were not found. CONCLUSION: We reported here a rare case of FA presenting with myelodysplasia at the age of 3 month.

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