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CASE REPORT
Korean J Pediatr 2016 November;59(Suppl 1) :S152-156.
Published online 2016 November 30.        doi:https://doi.org/10.3345/kjp.2016.59.11.S152
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Department of Pediatrics, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine, Ulsan, Korea
Corresponding Author: Tae-Sung Ko ,Tel: +82-2-3010-3386, Fax: +82-2-473-3725, Email: tsko@amc.seoul.kr
Copyright © 2016 by The Korean Pediatric Society
ABSTRACT
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.
Keywords: Hypertrophy | Megalencephaly cutis marmorata telangiectatica congenital | Macrocephaly-capillary malformation | Vascular skin disase | Polymicrogyria
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Commentary on Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea  2018 January;61(1)
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