Kim Ju Young, Lee Moon Souk, Kim Seung Yeon, Kim Hyun Jung, Lee Soo Jin, You Chur Woo, Kim Jon Soo, Kang Ju Hyung
Department of Pediatrics, Eulji University Hospital, Daejeon, Korea.
Korean J Pediatr. 2016 Nov;59(Suppl 1):S125-S128. doi: 10.3345/kjp.2016.59.11.S125. Epub 2016 Nov 30.
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 describe a case of a 6-year-old boy who reported left hemifacial flushing and sweating after exercise. He had an unremarkable birth history and no significant medical history. Complete ophthalmological and neurological examinations were performed, and no other abnormalities were identified. Magnetic resonance imaging was performed to exclude lesions of the cerebrum and cervicothoracic spinal cord, and no abnormalities were noted. His final diagnosis was classic idiopathic harlequin syndrome. Herein, we report the first pediatric case of idiopathic harlequin syndrome in Korea.
丑角综合征是一种由自主神经系统功能障碍引起的罕见疾病，表现为在受热、运动或情绪因素影响时面部不对称潮红和出汗。该综合征可能是原发性（特发性）的，病程良性，也可能继发于结构异常或医源性因素。特发性丑角综合征的确切机制尚不清楚。在此，我们描述了一名6岁男孩的病例，他在运动后出现左侧半侧面部潮红和出汗。他出生史无异常，也没有重大病史。进行了全面的眼科和神经科检查，未发现其他异常。进行了磁共振成像以排除大脑和颈胸脊髓的病变，未发现异常。他的最终诊断为典型特发性丑角综合征。在此，我们报告韩国首例特发性丑角综合征儿科病例。
