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Focal Cortical Dysplasia in an Infant With Aplasia Cutis Congenita: A Case Report
Inês Mazeda1, Inês Vivas1, Sandra Ramos1
1Pediatrics, Unidade Local de Saúde da Póvoa de Varzim/Vila do Conde, Póvoa de Varzim, PRT.
Abstract:
Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by a localized absence of skin, most often affecting the scalp. Although often isolated and with a favorable prognosis, it can be associated with other anomalies, including central nervous system malformations. Cortical dysplasia represents a group of disorders caused by abnormal neuronal migration and organization and is a known risk factor for epilepsy. We report the case of a 10-month-old infant with an occipital ACC lesion present since birth. The infant underwent neuroimaging, which revealed a focal area of cortical dysplasia in the right fronto-opercular/insular region. This case highlights the importance of recognizing associated anomalies in patients with ACC and long-term follow-up in the presence of coexisting neuroimaging abnormalities.
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