- Case Report
- Genetics and Metabolism
- A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
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Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
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Clin Exp Pediatr. 2017;60(3):94-97. Published online March 27, 2017
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Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3).... |
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- Hemophagocytic lymphohistiocytosis diagnosed by brain biopsy
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Hee Young Ju, Che Ry Hong, Sung Jin Kim, Ji Won Lee, Hyery Kim, Hyoung Jin Kang, Kyung Duk Park, Hee Young Shin, Jong-Hee Chae, Ji Hoon Phi, Jung-Eun Cheon, Sung-Hye Park, Hyo Seop Ahn
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Clin Exp Pediatr. 2015;58(9):358-361. Published online September 21, 2015
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Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, splenomegaly, jaundice, and pathologic findings of hemophagocytosis in bone marrow or other tissues such as the lymph nodes and liver. Pleocytosis, or the presence of elevated protein levels in cerebrospinal fluid, could be helpful in diagnosing HLH. However, the pathologic diagnosis of the brain is not included in the diagnostic criteria for this... |
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- A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
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Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
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Clin Exp Pediatr. 2012;55(9):350-353. Published online September 14, 2012
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An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons... |
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- A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
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Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim
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Clin Exp Pediatr. 2012;55(12):487-490. Published online December 20, 2012
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We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could... |
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