| • | pathogenesis: fatty alcohol oxidoreductase (FAO) deficiency |
| • | management: dietary restriction of long chain fatty acids may help |
clinical: (triad)
| • | triad = ichthyosis, mental retardation, spastic diplegia |
| • | mental retardation/ seizures |
| • | spastic di-tetraplegia with scissor gate |
| • | atypical retinal pigment degeneration with “glistening dots” pattern |
| • | skin resemble CIE congenital ichthyosiform erythroderma |
mnemonic: Sjo your children FAO Schwartz and buy them a tricycle, scissors, and glistening dots
|