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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...

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Detalles Bibliográficos
Autores principales: Choi, Yeon-Chul, Yum, Mi-Sun, Kim, Min-Jee, Lee, Yun-Jung, Ko, Tae-Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177701/
https://www.ncbi.nlm.nih.gov/pubmed/28018470
http://dx.doi.org/10.3345/kjp.2016.59.11.S152
Descripción
Sumario: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.