Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
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 m...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2016-11-01
|
| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-59-S152.pdf |
| _version_ | 1819091568667131904 |
|---|---|
| author | Yeon-Chul Choi Mi-Sun Yum Min-Jee Kim Yun-Jung Lee Tae-Sung Ko |
| author_facet | Yeon-Chul Choi Mi-Sun Yum Min-Jee Kim Yun-Jung Lee Tae-Sung Ko |
| author_sort | Yeon-Chul Choi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T22:41:48Z |
| format | Article |
| id | doaj.art-e2a2b93307094c49afa5e683083c659c |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-21T22:41:48Z |
| publishDate | 2016-11-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-e2a2b93307094c49afa5e683083c659c2022-12-21T18:47:49ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582016-11-0159Suppl 1S152S15610.3345/kjp.2016.59.11.S15220125553424Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in KoreaYeon-Chul Choi0Mi-Sun Yum1Min-Jee Kim2Yun-Jung Lee3Tae-Sung Ko4Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.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.http://kjp.or.kr/upload/pdf/kjped-59-S152.pdfHypertrophyMegalencephaly cutis marmorata telangiectatica congenitalMacrocephaly-capillary malformationVascular skin disasePolymicrogyria |
| spellingShingle | Yeon-Chul Choi Mi-Sun Yum Min-Jee Kim Yun-Jung Lee Tae-Sung Ko Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea Korean Journal of Pediatrics Hypertrophy Megalencephaly cutis marmorata telangiectatica congenital Macrocephaly-capillary malformation Vascular skin disase Polymicrogyria |
| title | Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea |
| title_full | Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea |
| title_fullStr | Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea |
| title_full_unstemmed | Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea |
| title_short | Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea |
| title_sort | megalencephaly capillary malformation polymicrogyria syndrome the first case report in korea |
| topic | Hypertrophy Megalencephaly cutis marmorata telangiectatica congenital Macrocephaly-capillary malformation Vascular skin disase Polymicrogyria |
| url | http://kjp.or.kr/upload/pdf/kjped-59-S152.pdf |
| work_keys_str_mv | AT yeonchulchoi megalencephalycapillarymalformationpolymicrogyriasyndromethefirstcasereportinkorea AT misunyum megalencephalycapillarymalformationpolymicrogyriasyndromethefirstcasereportinkorea AT minjeekim megalencephalycapillarymalformationpolymicrogyriasyndromethefirstcasereportinkorea AT yunjunglee megalencephalycapillarymalformationpolymicrogyriasyndromethefirstcasereportinkorea AT taesungko megalencephalycapillarymalformationpolymicrogyriasyndromethefirstcasereportinkorea |