Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings.
Incontinentia pigmenti is an uncommon neurocutaneous syndrome characterised by skin lesions, dental and ocular abnormalities and central nervous system involvement. We report the cranial MRI findings in two sisters with this condition. These include hypoplasia of the corpus callosum, enlargement of the lateral ventricles and periventricular white-matter lesions. One girl also had unilateral microphthalmia and rostral agenesis of the corpus callosum, a feature not previously described.
Aydingöz
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Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey.
Midia
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D061085:Agenesis of Corpus Callosum; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics