Table 2.
Diagnostic work up of children with metabolic epilepsy
| Investigations | Disorders of vitamin & mineral metabolism (n=20) | Amino acido pathies (n=12) | Organic acide mias (n=10) | Disorders of energy meta bolism (n=6) | Storage disorders (n=13) | Peroxi somal disorders (n=2) | Total (n=63 | |
|---|---|---|---|---|---|---|---|---|
| 1 | MRI brain | |||||||
| Diagnostic | 0 | 6 | 10 | 5 | 5 | 2 | 28 | |
| Non specific | 6 | 4 | 0 | 0 | 6 | 0 | 16 | |
| Normal | 14 | 2 | 0 | 1 | 2 | 0 | 19 | |
| 2 | MRS | 0 | 3 | 0 | 4 | 0 | 0 | 7 |
| 3 | EEG abnormal | 8 | 9 | 3 | 3 | 10 | 1 | 34 |
| 4 | Biochem investig including enzyme levels | 14 | 12 | 7 | 1 | 6 | 2 | 42 |
| 5 | Axillary skin biopsy | 3 | 3 | |||||
| 6 | Genetic mutation studies | 5 (2*) | 3 | 3 (3*) | 5 (5*) | 5 (4*) | 2 | 23 (14*) |
| 7 | Therapeutic trial | 4 | 4 |
MRS – Magnetic Resonance Spectroscopy. (*) diagnosed only by genetic studies