Table 1.
Symptoms and clinical signs of different age groups
| Age less than 1 year(n = 6) | 1-5 years (n = 36) | 6-10 years (n = 15)* | 11-20 years (n = 11)† | 21-53 years (n = 5) | |
|---|---|---|---|---|---|
| Macrocrania | 6 | 27 | 7 | 2 | -- |
| Motor deficits | 3 | 23 | 4 | 3 | 1 |
| Microplasia | -- | 3 | 4 | -- | |
| Headache/vomiting/drowsiness | 5 | 6 | 6 | 4 | |
| Head bobbing | 3 | 2 | 1 | -- | |
| Gaze disturbance | 2 | 10 | 3 | -- | -- |
| Reduced visual field or acuity | 5 | 3 | 4 | 2 | |
| Seizures | 4 | 5 | 1 | -- | |
| Precocious puberty | 2 | 4 | 3 | -- | |
| Delayed puberty(primary amenorrhea) | -- | -- | 2 | -- | |
* One patient had both microplasia and precocious puberty
† Two patients with delayed puberty and one patient with precocious puberty also had microplasia