| Main clinical features
|
microcephaly of postnatal onset, infantile cerebral and cerebellar atrophy with poor myelination, mental retardation
swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation and lack of tracking, truncal arching, and overt seizures
EEG disclosed dysmature background with multifocal spike and wave activity at 2–4 mo, hypsarrhythmia at 6–8 mo, and a diffuse slowing of background with bilateral slow, sharp frontotemporal activity at an older age
at MRI, severe diffuse cerebral and cerebellar atrophy already evident at 3 mo of age |