- Case Report
- A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency
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Do Hyeon Kim, Jin A Lee, Sung Jae Lee, Heui Seung Jo, Yun Kyoung Lee, June Dong Park, Beyong Il Kim, Jung-Hwan Choi, Dong Soon Lee, Han Ik Cho, Kyung Ran Park
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Clin Exp Pediatr. 2001;44(6):699-704. Published online June 15, 2001
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Congenital methemoglobinemia is caused by NADH-methemoglobin reductase deficiency in more than half of the total reported cases. NADH-methemoglobin reductase deficiency is an uncommon hereditary disorder producing methemoglobinemia and cyanosis in the homozygous subject. A majority of the patients born with these abnormalities have only a cosmetic defect-asymptomatic cyanosis. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency is an autosomal recessive disorder... |
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- A Case of Congenital Dyserythropoietic Anemia
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Il Tae Whang, Young Sook Ko, Kyeung Hee Kim, Gyeung In Lee, Han Ik Cho
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Clin Exp Pediatr. 1992;35(4):539-544. Published online April 15, 1992
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Congenital dyserythropoietic anemia(CDA) is a rare disease characterized by ineffective erythropoiesis, specific cytopathology of the nucleated red cells in the bone marrow and secondary hemochromatosis.
CDA is classified into 4 types on the basis of results of electron microscopic and serologic studies.
We experienced a case of congenital dyserythropoietic anemia in a 5/12 year-old boy.
Diagnosis was established by macrocytosis, anisopoikilocytosis in PB... |
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