BACKGROUND: Some children with incontinentia pigmenti exhibit encephalopathic 
features with severe seizures and disturbed consciousness, from the neonatal 
through the early infantile period. However, the pathological mechanism of brain 
lesion development is not fully understood.
METHODS: We measured the cerebrospinal fluid levels of cytokines and oxidative 
stress markers (8-hydroxy-2-deoxyguanosine and the hexanoyl-lysine adduct) in a 
young girl with incontinentia pigmenti complicated by an encephalopathic event 
that occurred on her first day of life. Magnetic resonance imaging revealed 
widespread reduction of water diffusion in the basal ganglia, the 
periventricular and subcortical white matter, and the corpus callosum.
RESULTS: Oxidative stress markers were elevated at 4 days of age but decreased 
mildly by 25 days of age. Elevated levels of soluble tumor necrosis factor 
receptor 1 were observed at both 4 and 25 days of age, although tumor necrosis 
factor-α levels were below the limit of detection. No other cytokine levels were 
elevated, except for those of interleukin-10 at 25 days of age.
CONCLUSIONS: Tumor necrosis factor-α expression and oxidative stress are 
involved in the pathogenesis of brain lesions in children with incontinentia 
pigmenti, and elevated cerebrospinal fluid cytokine levels may not be apparent 
during encephalopathic events.