[Ito's hypomelanosis].
A severe form of hypomelanosis of Ito in two-year-old white girl is reported. The disease was revealed as fetal microcephalia and epileptic seizures. Peripheral blood lymphocyte karyotype was normal. Brain MRI revealed absence of clear delineation between cortical grey matter and brain white matter. The literary review with emphasis of the neurological manifestations is presented.
Aver'ianov
Iu N
IuN
Filippova
T V
TV
D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D004829:Epilepsy, Generalized / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000175:diagnosis; D010859:Pigmentation Disorders / Q000175:diagnosis*
Gipomelanoz Ito.