Megalencephaly-capillary Malformation Syndrome / 대한피부과학회지

ABSTRACT

Megalencephaly-capillary malformation syndrome is a disorder characterized by megalencephaly or hemimegalencephaly, focal or generalized somatic overgrowth, and vascular malformations. Other characteristic features are neonatal hypotonia, hydrocephalus, developmental delay, syndactyly/polydactyly, frontal bossing, and connective tissue dysplasia. Previously reported patients exhibit wide phenotypic variability in clinical and neuroradiological findings. Differential diagnosis may be challenging for clinicians due to other similar neurocutaneous syndromes. Herein, we report an 11-month-old male infant that presented with extensive, diffuse, reticulated, erythematous patches on his face, trunk, and extremities. Physical examination revealed an increased head circumference (>97 percentile), frontal bossing, hypertrophy of the right arm and leg, and syndactyly on both feet. Borderline developmental delay was identified, and magnetic resonance imaging of the brain revealed an enlarged right cerebral hemisphere and non-obstructive ventriculomegaly. To our knowledge, this is the first report of megalencephalycapillary malformation syndrome in Korean literature.