Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy.
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.
Abe
Shinpei
S
Department of Pediatrics, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan. shiabe@juntendo.ac.jp
Okumura
Akihisa
A
Hamano
Shin-ichiro
S
Tanaka
Manabu
M
Shiihara
Takashi
T
Aizaki
Koichi
K
Tsuru
Tomohiko
T
Toribe
Yasuhisa
Y
Arai
Hiroshi
H
Shimizu
Toshiaki
T
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