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A Case of Incontinentia Pigmenti with Developmental Brain Malformation

Journal of the Korean Pediatric Society 2002;45(4):535-539.
Published online April 15, 2002.
A Case of Incontinentia Pigmenti with Developmental Brain Malformation
Suk Ho Kang, Soon Kim, Seung Hee Jung, Sang Geel Lee
Department of Pediatrics, Fatima Hospital, Taegu, Korea
중추 신경계 발달이상을 동반한 색소실소증 1례
강석호, 김순, 정승희, 이상길
대구파티마병원 소아과
Sang Geel Lee, Email: sgleeped@korea.com
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.
Key Words: Incontinentia pigmenti, Neonatal seizure, Encephalopathy

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