Table 2.
Neurological examination and investigations done for the studied children
| Neurological examination and investigations | N (%) |
|---|---|
| Neurological examination | |
| Hypertonia, hyperreflexia | 2 (1.8) |
| Hypotonia, hyperreflexia | 50 (44.2) |
| Normal | 61 (54) |
| CT | |
| Brain atrophic changes | 39 (34.4) |
| White matter changes | 2 (1.8) |
| Normal | 23 (20.4) |
| Not done | 49 (43.4) |
| MRI | |
| Brain atrophic changes | 4 (3.5) |
| White matter changes | 13 (11.5) |
| Normal | 3 (2.7) |
| Not done | 93 (82.3) |
| EEG | |
| Hypsarrhythmia | 9 (8) |
| Generalized epileptic discharges | 24 (21.2) |
| Focal epileptic discharges | 10 (8.8) |
| Normal | 14 (12.4) |
| Not done | 56 (49.6) |
| Metabolic screening (blood Phe in μmol/L) | |
| Mean ± SD | 1,212±546 |
| Classification | |
| Hyperphenylalaninemia | 18 (15.9) |
| Mild to moderate PKU | 40 (35.4) |
| Classical PKU | 55 (48.7) |
Abbreviations: CT, computed tomography; EEG, electroencephalography; MRI, magnetic resonance imaging; PKU, phenylketonuria.