Table 1 Clinical features of the patients
Patient/clinical features | V2 | V3 | V5 | V6 | V7 |
|---|---|---|---|---|---|
Gender | Male | Male | Male | Male | Male |
Age at examination | 5 years | 1 year and 7 months | 4 years 7 months | 5 years and 8 months | 3 years and a half |
Head circumference | Normal | Normal | Normal | < 3rd percentile | < 3rd percentile |
Dysmorphic features | Absent | Absent | Absent | Absent | Absent |
Cognitive impairment | Severe | Severe | Severe | Severe | Severe |
Motor delay | Severe | Severe | Severe | Severe | Severe |
Age of appearance of motor delay | 4 months | 3 months | 3 months | 5 months | 5 months |
Age at walking | 4 years | Does not walk | Does not walk | 5 years | Does not walk |
Tone abnormalities | Normal | Normal | Hypotonia | Hypotonia mainly in Lower limbs and hypertonia | Hypotonia mainly in Lower limbs and hypertonia |
Pyramidal signs | N/A | N/A | N/A | Increased deep tendon reflexes, spasticity | Increased deep tendon reflexes, spasticity |
Cerebellar signs | Mild ataxia | Absent | Absent | Prominent ataxia | Prominent ataxia |
Oculomotor findings | Strabismus | Strabismus | Strabismus | Strabismus, Nystagmus | Strabismus, Nystagmus |
Oromotor dyspraxia | Absent | Absent | Absent | Present | Present |
Seizures | Absent | Absent | Present | Present | Present |
Age at onset | 2 years | At birth | At birth | ||
Type of seizure | N/A | Grand Mal | Grand Mal | ||
Type of Medication | Sodium Valproate | Topiramate, Sodium Valproate | Topiramate, Sodium Valproate | ||
Refractory to medication | Yes, 6–7 episodes/day | Yes, 1 crisis/2–3 days | Yes | ||
Age it became refractory | 3 years | N/A | N/A |