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Case Report
A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2014;57(1):50-53.   Published online January 31, 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with...

Retropharyngeal abscess coinfected with Staphylococcus aureus and Mycobacterium tuberculosis after rhinoviral infection in a 1-month-old infant
Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, Eun Sun Kim, Soo Han Choi, Yae Jean Kim, Kang Mo Ahn, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2013;56(2):86-89.   Published online February 25, 2013

A retropharyngeal abscess is a rare disease entity in young infants but can develop after nasopharyngeal viral infection. Group B Streptococcus and Staphylococcus aureus are the most common pathogens in young infants, however, Mycobacterium tuberculosis is very rare. We report the case of retropharyngeal abscess and coinfection with S. aureus and M. tuberculosis in a very young infant presenting with...

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia
Ji Hun Shin, So Yoon Ahn, Jeong Hee Shin, Se In Sung, Ji Mi Jung, Jin Kyu Kim, Eun Sun Kim, Hyung Doo Park, Ji Hye Kim, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2012;55(8):301-305.   Published online August 23, 2012

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the...

A case of de novo duplication of 15q24-q26.3
Eun Young Kim, Yu Kyong Kim, Mi Kyoung Kim, Ji Mi Jung, Ga Won Jeon, Hye Ran Kim, Jong Beom Sin
Clin Exp Pediatr. 2011;54(6):267-271.   Published online June 30, 2011

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical...

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin
Clin Exp Pediatr. 2010;53(7):774-777.   Published online July 31, 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

Original Article
Pain reducing effect of vapocoolant spray during injection and heelstick procedure in neonates
Eun Kyong Choi, Ji Mi Jung, Jong Beom Sin
Clin Exp Pediatr. 2008;51(5):481-486.   Published online May 15, 2008
Purpose : The aims of this study were to test the efficacy of vapocoolant spray to decrease the symptoms associated with pain in newborns undergoing heel stick and intramuscular injection and compare the pain relief effect of oral glucose. Methods : Randomized, controlled study including sixty newborns undergoing heel stick and intramuscular injection. Group 1 was heelsticked, Group 2 was intramuscular...