Table 1
Clinical findings in two males with the same MECP2 variation
| Clinical data | Imessaoudene et al17 (G428S) | Our case (G428S) |
|---|---|---|
| Occurrence | Isolated | Isolated |
| Pregnancy/delivery | Normal | Normal |
| Developmental delay | + | + |
| Severe mental retardation | + | + |
| Acquired microcephaly | - | + |
| Seizures | - | Frequent and resistant to treatment (presented first at age of 12 months) |
| Neurological findings | Restless, uncoordinated movements | Periodic breathing, dorsal extension of the hands |
| Hypotonia, hyperlaxity, mild distal muscular atrophy | Neurogenic muscular atrophy | |
| Purposeful hand skills | + | Never acquired |
| Loss of skills | Retained | - |
| Electroencephalogram | Bradyarrhythmia (absence of paroxysmal anomalies) | Generalised slow waves |
| Brain imaging (MRI) | Normal | Marked brain atrophy |
| Survival | Still alive aged 3 years | Died of respiratory failure at 18 months |
