Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
Numerous numbers of pre-, peri- and postnatal damages cause West syndrome in early infancy, however, etiology in many cases are not still elucidated despite intensive biochemical and neuroradiologic investigations. We described four patients having early onset epileptic encephalopathy with severe hypomyelination and reduction in cerebral white matter. The clinical symptoms of these patients are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early infancy. All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI. Serial MRI investigations in three patients showed absence of myelination of the white matter. On EEG, one patient revealed suppression-burst and other three had hypsarrhythmia. Despite having intractable seizures, no patient showed deterioration of neurological development. The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) like syndrome, however it is not compatible with these two conditions. The findings observed in our patients can be regarded as a new clinical condition associated with early onset West syndrome.
Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata-city, Niigata 950-2085, Japan. jtohyama@masa.go.jp
Jun
J
Tohyama
Noriyuki
N
Akasaka
Hitoshi
H
Osaka
Yoshihiro
Y
Maegaki
Mitsuhiro
M
Kato
Naka
N
Saito
Sumimasa
S
Yamashita
Kousaku
K
Ohno
D002540:Cerebral Cortex / Q000473:pathology*; D003711:Demyelinating Diseases / Q000150:complications / Q000473:pathology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D013036:Spasms, Infantile / Q000150:complications / Q000473:pathology*