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[Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis].

A Japanese girl with incontinentia pigmenti had characteristic skin lesions at birth. The diagnosis was confirmed by skin biopsy and positive family history. Her mother and sisters also suffered from IP. She had generalized tonic seizures at 1 month of age, and infantile spasms at 7 months. ACTH therapy was very effective to infantile spasms. At 9 years now, she is suffering from atypical absence, mild mental retardation and mild left hemiparesis. MRI revealed marked atrophy of the cerebral white matter predominantly around the posterior horn of right lateral ventricle, cystic lesions in the white matter around the anterior horns of both lateral ventricles, which were not clear by CT scan, and atrophy of the right cerebral peduncle and pontine basis. Although these findings are non-specific, they may be clues which explicate the mechanism of central nervous system involvement in incontinentia pigmenti.