Table 3
Details of children referred to PIND with a suggested diagnosis of Alpers’ syndrome
| Case | Expert Group decision | Age at presentation | Death reported | Seizures | Typical EEG | Typical VEP | Liver dysfunction | Liver biopsy | Muscle biopsy | Brain biopsy |
|---|---|---|---|---|---|---|---|---|---|---|
| Typical EEGs and VEPs are described in table 3. “Mitochondrial” in respect of liver and muscle biopsies refers to the conclusion given by the pathologist reviewing the material. Salient details of the pathology are given in the results section. | ||||||||||
| EEG, electroencephalogram; ND, not done; VEP, visual evoked potentials; ? not recorded. | ||||||||||
| 1 | Alpers’ syndrome | 19 months | Yes | Generalised | No | ? | Yes | Alpers’ | “mitochondrial” | Alpers’ |
| 2 | Alpers’ syndrome | 8 months | Yes | Myoclonic | No | Yes | Yes | Alpers’ | Normal | ND |
| 3 | Mitochondrial encephalomyopathy | 3¼ years | Yes | Myoclonic | No | ND | No | “mitochondrial” | “mitochondrial” | ND |
| 4 | Mitochondrial encephalomyopathy | 1 year | No | Myoclonic | No | Yes | Yes | ND | ND | ND |
| 5 | Mitochondrial encephalomyopathy | 9 months | Yes | Generalised | No | No | Yes | “mitochondrial” | Normal | ND |
| 6 | HIV encephalopathy | 6 months | No | Spasms | No | ? | Yes | ND | ND | ND |
| 7 | Neuronal ceroid lipofuscinosis | 6½ years | Yes | Generalised | No | No | Yes | ND | ND | Not Alpers’ |
| 8 | Undiagnosed neurodegenerative disorder | 1½ years | No | Generalised | No | No | Yes | ND | ND | ND |
| 9 | Undiagnosed neurodegenerative disorder | 1 year | Yes | Generalised | No | No | No | Normal | Normal | ND |
| 10 | Undiagnosed neurodegenerative disorder | 2 years | No | Generalised | “Alpersish” | No | Yes | Fatty change only | ND | ND |
| 11 | Undiagnosed neurodegenerative disorder | 4 months | No | Generalised | No | ? | No | ND | ND | ND |
