Presenting complaint | Examination | MRI | CSF | 1-150Serum phenylalanine (μmol/l) | Response to dietary phenylalanine restriction | |
Current case | Progressive gait and cognitive impairment | Spastic paraparesis with cognitive decline | Normal | Oligoclonal bands | 2153 | Partial recovery |
Weglage et al 12 | Progressive gait and cognitive impairment | Spastic paraparesis with cognitive decline | White matter plaques consistent with dysmyelination | Normal | 882 | Almost complete recovery |
Ishimaru et al 13 | Progressive gait and visual impairment | Spastic paraparesis with visual loss | White matter plaques consistent with dysmyelination | Normal | 1663 | No recovery |
↵1-150 Normal range 25–81 μmol/l.