Table 2
Clinical features of COX15 mutated patients
| Kennaway et al12;Antonicka et al4 | Oquendo et al13 | Present case | |
|---|---|---|---|
| NS, not specified in the report. | |||
| Gender | Female | Male | Male |
| Family history | – | – | – |
| Age at onset/at death | Birth/24 days | 7 months/3 years 11 months | 4 months/still alive (16 years) |
| Neurological signs | Hypotonia | Axial hypotonia | Axial hypotonia |
| Epileptic seizures | Limb spasticity | Limb spasticity | |
| Bulbar signs | Cerebellar tremor | ||
| Nystagmus, retinopathy microcephaly | Eye movement incoordination | ||
| Dystonia | |||
| Hypertrophic cardiomyopathy | + | – | – |
| Other clinical features | Midfacial hypoplasia | Gastrointestinal dysfunction | Somatic growth below 3rd centile |
| Plasma lactate (mM) | Increased | 5.2 | 3.6 |
| CSF lactate (mM) | NS | 6.2 | 3.8 |
| Brain MRI | NS | Basal nuclei | Basal ganglia (putamina, caudate) |
| Brainstem tegmentum | Cerebellar white matter | ||
| Cerebral peduncles | |||
| Mutations | 700C→T, C447-3G | 700C→T, 700C→T | 503C→G, 1081T→C |
