Browse > Article
http://dx.doi.org/10.3345/kjp.2016.59.11.S152

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

Choi, Yeon-Chul (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Yum, Mi-Sun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Min-Jee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Lee, Yun-Jung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Ko, Tae-Sung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.59, no.sup1, 2016 , pp. 152-156 More about this Journal
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;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly: a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6:291-302.   DOI
2 Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:67-73.   DOI
3 Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A 2007;143A:3009.   DOI
4 Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 2007;143A:2981-3008.   DOI
5 Martinez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, Gonzalez-Meneses A, et al. Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A 2010;152A:3101-6.   DOI
6 Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, et al. The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol 2009;145:287-93.
7 Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012;158A:269-91.   DOI
8 Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, et al. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab 2015;114:467-73.   DOI
9 Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet 2014;46:510-5.   DOI
10 Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44:934-40.   DOI
11 Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, et al. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns 2005;16:117-28.
12 Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, et al. Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004;126A:99-103.   DOI
13 Mirzaa GM, Riviere JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet 2013;163C:122-30.
14 Lapunzina P, Gairi A, Delicado A, Mori MA, Torres ML, Goma A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A 2004;130A:45-51.   DOI