Table 2 Review of clinical features associated with BFPP syndrome
Clinical feature | n (%) |
|---|---|
Motor impairment | |
Able to walk | 44 (70) |
Unable to walk | 19 (30) |
Missing | 26 |
Cognitive impairment | |
Severe | 57 (79.2) |
Moderate | 12 (16.7) |
Mild | 3 (4.1) |
Missing | 17 |
Cerebellar signs | |
Present | 56 (88.9) |
Absent | 7 (11.1) |
Missing | 24 |
Pyramidal signs | |
Present | 53 (78) |
Absent | 15 (22) |
Missing | 21 |
Oculomotor findings | |
Present | 73 (93.6) |
Strabismus | 36 (53.7) |
Nystagmus | 15 (22.4) |
Strabismus + nystagmus | 16 (23.9) |
Missing | 17 |
Absent | 5 (6.4) |
Missing | 11 |
Head circumference | |
Normal | 64 (81) |
Microcephaly | 10 (12.7) |
Macrocephaly | 5 (6.3) |
Missing | 10 |
Seizures | |
Present | 75 (90.4) |
Age at onset in years, median (IQR) | |
Refractory | 41 (54.7) |
Missing | 23 |
Absent | 8 (9.6) |
Missing | 6 |