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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...

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