Korean J Pediatr.  2016 Nov;59(Suppl 1):S152-S156. 10.3345/kjp.2016.59.11.S152.

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

• Choi YC
• Yum MS
• Kim MJ
• Lee YJ
• Ko TS

• KMID: 2362279
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S152

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.

Keyword

Hypertrophy; Megalencephaly cutis marmorata telangiectatica congenital; Macrocephaly-capillary malformation; Vascular skin disase; Polymicrogyria

MeSH Terms

Capillaries
Child
Diagnosis
Extremities
Female
Humans
Hypertrophy
Infant
Korea*
Megalencephaly
Neurology
Polymicrogyria
Syndactyly