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Case Report
A Case of Type Ⅰ Glanzmann's Thrombasthenia Diagnosed by Flow Cytometry
Mun Su Lee, Choong Ho Shin, Kyu Young Kim, Dong Woo Son, Hwa Ryung Chung, Do Hyun Kim
Clin Exp Pediatr. 1999;42(1):133-137.   Published online January 15, 1999
Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein Ⅱb-Ⅲa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in...
Pena-Shokeir I Syndrome in a Newbonrn Infant
Myung Gil Han, Kyu Young Kim, Dong Woo Son, Bo Young Yoon, Kyung Hee Park, Do Hyun Kim, Hyung Ro Moon
Clin Exp Pediatr. 1997;40(5):721-725.   Published online May 15, 1997
Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait. We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory...
Recurrent Hematuria due to Renal Hypouricemia
Kyu Young Kim, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1995;38(1):129-132.   Published online January 15, 1995
A marked low concentration of serum uric acid(0.7-1.2mg/dl) was detected in a 14-year-old boy with recurrent episodes of gross hematuria. The hypouricemia accompanied with a markedly increased urinary clearance of uric acid (32.6-56.0ml/min), which was only minimally changed after both the administration of pyrazinamide, and inhibitor of the renal tubular secretion of uric acid, and the administration of probenecid, and...