Table 1 Clinical, psychological, radiological features of the affected patients II.1 and III.1
|  | II.1 (28 years) | III.1 (6 ½ years) |
|---|---|---|
Development parameters | ||
Sitting age (months) | 8 | 11 |
Walking age (months) | 14 | 23 |
Speaking age (months) | 12 | 30 |
Clinical findings | ||
Macrocephaly | Yes (P 97) | No (P 90) |
Muscle tonus | Normal | Normal |
Seizures | No | No |
Facies | ||
Forehead | Large | Large |
Strabismus | Yes (divergens) | Yes (divergens) |
Nasal bridge | Broad | Broad |
Ears form and position | Normal | Normal |
Mouth form and occlusion | Normal | Normal |
Eye distance | 2.5Â cm (intercantal) and 6Â cm (interpupillar) | 2.5Â cm (intercantal) and 5.5Â cm (interpupillar) |
Cerebellar symptoms | ||
Ataxic gait | Yes | Yes |
Instability | Yes | Yes |
Dysmetry | Yes | Yes |
Dysartria | Yes | Yes |
SARA score | 6/40 | 11/40 |
Kidney and urinary tract defects | Recurrent infections, hypoplasia of the right kidney | Recurrent infections |
Intelligence quotient (SON-R scale) | 65 | 51 |
Brain MRI findings | ||
Corpus callosum hypoplasia | Hypoplastic | Hypoplastic |
Ventriculomegaly or hydrocephalus | No | No |
Cerebellar abnormalities | No | No |