Feature * | MEB | WWS | Patient 1† | Patient 2‡ |
---|---|---|---|---|
MEB, muscle-eye-brain disease; WWS, Walker–Warburg syndrome; FTP, fronto, temporal, and parietal. | ||||
*The severity of the symptoms grade from – (absent) to +++ (very pronounced); †MEB phenotype, FKRP mutations; ‡WWS phenotype, FKRP mutations. | ||||
Cortical abnormality | Pachygyria/polymicrogyria | Agyria thin mantle | FTP pachygyria | Agyria |
Encephalocele | − | + | − | − |
Hydrocephalus | ++ | +++ | + | +++ |
White matter abnormality | + | +++ | − | ++ |
Fused hemispheres | − | + | − | − |
Absent septum | − | + | − | + |
Corpus callosum | Normal/thin | Absent | Normal | Absent |
Cerebellar hypoplasia | ++ | +++ | ++ | +++ |
Cerebellar vermis | Hypoplastic | Absent | Hypoplastic | Absent |
Cerebellar cysts | ++ | − | ++ | − |
Muscular dystrophy | +++ | +++ | +++ | +++ |
Micropthalmia | + | ++ | − | ++ |
Retinal defects | ++ | +++ | + | − |
Anterior chamber abnormalities | ++ | +++ | ++ | ++ |
Life expectancy | 10–30 years | <3 years | 7 years | 3 years |