• Clinical and Experimental Pediatrics
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• 제46권4호
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• pp.397-399
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• 2003

저자들은 특이한 얼굴, 근 긴장도 증가, 정신 지체와 혈액학적으로 일시적인 적혈구 이형성증(dyserythropoiesis)의 소견을 동반한 MDS 의증의 소견과 혈소판 감소증, 호산구 증가증을 동반하는 부분 21-monosomy 증후군 1례를 신생아기부터 8세까지 추적 관찰하고 보고한다. 이와 같은 예는 우리나라에서 보고되는 첫 증례라고 사료되어 간단한 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제53권5호
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• pp.661-665
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• 2010

Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe anemia with a hemoglobin level of 3.3 g/dL. He had a history of small bowel resection from 50 cm below the Treitz ligament to 5 cm above the ileocecal valve necessitated by midgut volvulus in the neonatal period. Laboratory tests showed deficiencies of both vitamin B12 and iron. A bone marrow examination revealed dyserythropoiesis and low levels of hemosiderin particles, and a cytogenetic study disclosed a normal karyotype. After treatment with parenteral vitamin B12 and elemental iron, both anemia and growth showed gradual improvement. This is a rare case that presented with short stature and delayed puberty caused by nutritional deficiency anemia in Korea.