All issues > Volume 45(4); 2002

Case Report

J Korean Pediatr Soc. 2002;45(4):535-539. Published online April 15, 2002.

A Case of Incontinentia Pigmenti with Developmental Brain Malformation

Suk Ho SH Kang¹, Soon S Kim¹, Seung Hee SH Jung¹, Sang Geel SG Lee¹

¹Department of Pediatrics, Fatima Hospital, Taegu, Korea

Correspondence Sang Geel SG Lee ,Email: sgleeped@korea.com

Abstract

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.

Keywords :Incontinentia pigmenti, Neonatal seizure, Encephalopathy