- Case Report
- Neurology
- A pediatric case of idiopathic Harlequin syndrome
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Ju Young Kim, Moon Souk Lee, Seung Yeon Kim, Hyun Jung Kim, Soo Jin Lee, Chur Woo You, Jon Soo Kim, Ju Hyung Kang
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Clin Exp Pediatr. 2016;59(Suppl 1):S125-S128. Published online November 30, 2016
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Harlequin syndrome, which is a rare disorder caused by dysfunction of the autonomic system, manifests as asymmetric facial flushing and sweating in response to heat, exercise, or emotional factors. The syndrome may be primary (idiopathic) with a benign course, or can occur secondary to structural abnormalities or iatrogenic factors. The precise mechanism underlying idiopathic harlequin syndrome remains unclear. Here, we... |
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- A Case of 2-Methylbutyryl-CoA Dehydrogenase Deficiency
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Moon Souk Lee, Ho Jin Park, In Kyu Lee, Kyuchul Choeh, Hye-Ran Yoon
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Clin Exp Pediatr. 2004;47(1):100-105. Published online January 15, 2004
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We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no... |
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