• Title/Summary/Keyword: Dyserythropoiesis

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Monosomy 21 Mosaicism in a Child with Dyserythropoiesis (적혈구 이형성증(Dyserythropoiesis)의 소견을 보이는 부분 21-monosomy 증후군)

  • Lim, Jae-Young;Seo, Ji-Hyoun;Choi, Myoung-Bum;Park, Chan-Hoo;Woo, Hyang-Ok;Youn, Hee-Shang
    • Clinical and Experimental Pediatrics
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    • v.46 no.4
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    • pp.397-399
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    • 2003
  • All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty

  • Song, Seung-Min;Bae, Keun-Wook;Yoon, Hoi-Soo;Im, Ho-Joon;Seo, Jong-Jin
    • Clinical and Experimental Pediatrics
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    • v.53 no.5
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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.