| 1 |
Mental Retardation |
Moderate to severe mental retardation in all patients and limited verbal language in most cases. |
| 2 |
Motor Developmental Delay |
Developmental milestones are achieved at much later ages. |
| 3 |
Seizures |
Reported in most BFPP patients. They mostly have symptomatic generalized epilepsy. Types of seizures varying among the patients include tonic, atonic, atypical absence, and myoclonic. Some BFPP cases are also associated with Lennox-Gastaut syndrome, characterized by a severe form of generalized seizure of multiple types. Specific electroencephalogram (EEG) abnormality called slow spike-and-wave pattern is also observed in BFPP patients while awake and generalized fast rhythms while asleep. |
| 4 |
Cerebellar Signs |
Cerebellar signs such as truncal ataxia, finger dysmetria, and rest tremor are observable in most BFPP patients. |
| 5 |
Dysconjugate Gaze |
Many BFPP cases report the patient's gaze as esotropia, nystagmus, exotropia, strabismus, or a history of squint eye. |
| 6 |
Bilateral Polymicrogyria |
Abnormally thickened cortex with many small ridges or folds in a bilaterally symmetrical manner with decreasing anterior-to-posterior gradient of severity. |
| 7 |
White Matter Defect |
Random white matter signal changes are observed in all BFPP patients bilaterally. |
| 8 |
Brainstem and Cerebellar Hypoplasia |
BFPP patients present with small brain stem and vermis in many cases. |
