title: Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy.
abstract: OBJECTIVE
  We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy.
  
  
  METHODS
  We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations with reduced consciousness and clusters of seizures by 6 months of age; and (3) no evidence of central nervous system infection or metabolic derangement.
  
  
  RESULTS
  The onset of the encephalopathic events was within the first 2 months of life in all but one patient. All had clusters of focal clonic seizures. The duration of seizures was typically 5 min. The seizures ceased within 5 days in all patients. Various degrees of reduced consciousness were observed in association with the frequent seizures. Diffusion-weighted imaging during the acute phase showed reduced water diffusion in the subcortical white matter, corpus callosum, basal ganglia, thalami, and internal capsule in two patients. Scattered subcortical white matter lesions were observed on fluid-attenuated inversion-recovery images in two patients.
  
  
  CONCLUSIONS
  The encephalopathic manifestations in patients with incontinentia pigmenti were characterized by seizure clusters and reduced consciousness, albeit of relatively short duration. Magnetic resonance imaging abnormalities were predominant in the subcortical areas in most patients.
authors.affiliation: Department of Pediatrics, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan. shiabe@juntendo.ac.jp
authors.forename: Shinpei
authors.initials: S
authors.lastname: Abe
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Shin-ichiro
authors.initials: S
authors.lastname: Hamano
authors.forename: Manabu
authors.initials: M
authors.lastname: Tanaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Koichi
authors.initials: K
authors.lastname: Aizaki
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Tsuru
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Toribe
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Arai
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D002675:Child, Preschool; D004569:Electroencephalography; D004660:Encephalitis / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D012189:Retrospective Studies; D012640:Seizures / Q000209:etiology / Q000503:physiopathology