title: Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
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.
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
authors.forename: Yeon-Chul
authors.initials: YC
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
authors.forename: Mi-Sun
authors.initials: MS
authors.lastname: Yum
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
authors.forename: Min-Jee
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
authors.forename: Yun-Jung
authors.initials: YJ
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
authors.forename: Tae-Sung
authors.initials: TS
authors.lastname: Ko
keywords: Hypertrophy; Macrocephaly-capillary malformation; Megalencephaly cutis marmorata telangiectatica congenital; Polymicrogyria; Vascular skin disase