Table 1 Detailed milestone, demographic, clinical, radiological, and genetic features of the patients
Pts/families | Patient 1/ Family 1 | Patient 2 Fmaily 1 | Patient 3 Family 2 | Patient 4 Family 2 | Patient 5 Family 3 |
|---|---|---|---|---|---|
PCH Type | 10 | 10 | 7 | 7 | 11 |
Age(years) | 5 (Ex age 5) | 4.25 | 8.75 | 6.5 | 12 |
Age at diagnosis(years) | 4.5 | 3.25 | 6.75 | 4.5 | 10.75 |
Age at application(years) | 3.5 | 2.25 | 5.75 | 3.5 | 10.25 |
Consanguinity | Yes | Yes | Yes | Yes | Yes |
HC(cm) | 43 | 44 | 47 | 47 | 47 |
Gender | M | F | M | F | M |
Birth Weight (Kg) | Term/2.100 | Term/2.200 | Term/2.700 | Term/3.100 | Term/3.200 |
Fetal Distress | No | No | No | No | No |
Birth HC (cm) | 33 | 33,5 | 32 | 33 | 33 |
Head Control (Months) | 7 | 4 | 8 | 5 | 5 |
Sitting Age (months) | No Sitting | With hand support at 48 | 18 | 12 | 12 |
Walking Age (year) | No walking | No walking | No walking | At 3 Still walking | At 4 Still walking |
Standford-Binnet Test | Severe delay | Severe delay | moderate delay | Mild delay | Mild delay |
Epilepsy | Yes | No | Yes | No | Yes |
Anti-seizure medication | Levetiracetam Vigabatrin Topiramate Phenobarbital | - | Valproic acid Oxycarbamezepine Phneobarbital | - | Levetiracetam |
Neuropathy | Yes | No | No | No | No |
Pyramidal/ Extrapyramidal symptoms | Yes | Yes | Yes | Yes | Yes |
Optic Atrophy | Yes | Yes | No | No | No |
Scoliosis/ contractures | No | No | No | No | No |
Abnormal genitalia | No | No | Yes | No | No |
Genetic | CLP1 c.419G > A(p.R140H) Homozygous mutation *reported before | CLP1 c.419G > A(p.R140H) Homozygous Mutation *reported before | TOE 1 c.572A > G(p.N191S) Homozygous mutation *reported before | TOE1 c.572A > G(p.N191S) Homozygous Mutation * reported before | TBC1D23 (c.1263 + 1G > A) Homozygous mutation novel variant |
MRI-Ventral pons flattening | Yes | Yes /Min | No | No | Yes |
MRI- Vermis hypoplasia | Yes | Yes/Min | Yes/Min | Yes/Min | Yes |
MRI-Hypoplastic hemispheres | Yes | No | Yes | Yes | Yes/Min |
Corpıs Callosum Hypoplasia | Minimal | No | Yes | Yes | No |
MRI-Cortical atrophy | Yes | No | Yes | Yes | No |
MRI-Abnormal myelination | Yes | No | No | No | No |
MRI at Birth or specific age | Not available | Normal (at two years old) | Not available | Not available | Not available |