A Case of Incontinentia Pigmenti with Developmental Brain Malformation

중추 신경계 발달이상을 동반한 색소실소증 1례

Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement in the neonatal period, or complicated by encephalopathy, may cause severe neurologic impairment, retardation or even death. We experienced a case of incontinentia pigmenti in a three-day-old female patient who had characteristic papulovesicular skin lesions and partial seizures with secondary generalization. Histopathological examination favored the diagnosis of incontinentia pigmenti and a brain MRI showed undifferentiated white matters with periventricular nodular lesions.

저자들은 생후 3일째 시작된 경련과 특징적인 피부 병변을 주소로 입원한 환아에서 피부 생검과 뇌 자기 공명 촬영으로 중추 신경계 발달 이상을 동반한 색소 실조증 1례를 경험하였고 중추 신경계 발달 이상은 치명적인 예후 인자로 사료되며 이를 문헌 고찰과 함께 보고하는 바이다.