- Case Report
- Familial Hemophagocytic Lymphohistiocytosis
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Dong Un Kim, Dae Kyun Koh, Yeon Dong Lee, Jae Kyun Hur, Kyoo Hong Cho, Suk Jin Kang
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Clin Exp Pediatr. 1994;37(9):1279-1285. Published online September 15, 1994
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Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticuloendothelial organs.
We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytompenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of... |
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- A Case of Rhizomelic Chondrodysplasia Punctata
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Yeon Dong Lee, Moon Young Song, Hyun Hi Kim, Seunghoon Han, Wonbae Lee
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Clin Exp Pediatr. 1994;37(9):1312-1316. Published online September 15, 1994
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Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by raiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in carilage.
We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal... |
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