Clinical findings in males with a MECP2 mutation presenting with severe, non-fatal encephalopathy
| Data | Claes et al (1997), Meloni et al11 | Clayton-Smith et al12 | Orrico et al13 | Our case | |||
| Familiality | 2 cases (uncle and nephew) | Sporadic | 4 brothers | Isolated | |||
| Age at onset | Infancy | Neonatal | ? | Neonatal | |||
| Growth parameters | ? | ? | ? | 50th (3 y) | |||
| OFC (centile) | 75th-90th in adulthood | 10th-25th (6 y) | Normal in adulthood | 50th (3 y) | |||
| Severe mental retardation | + | + | + | + | |||
| Seizures | + | + | ? | — | |||
| (2 y in 1 case, adulthood in 1 case) | (3 y) | ||||||
| Neurological findings | Ataxic gait | Ataxic gait | Resting tremors | Restless, uncoordinated movements, no spasticity, mild distal muscular atrophy | |||
| Spasticity, distal muscular atrophy | Lower limb muscular atrophy | Slowness of movements | |||||
| Unilateral choreoathetosis in 1 case | |||||||
| Purposeful hand skills | ? | +/− | ? | + | |||
| Loss of skills | +/− | + | — | — | |||
| Electroencephalogram | Bradyarrythmia | Excess of slow wave activity | ? | Bradyarrythmia | |||
| Brain imaging | Normal in 1 case4-150 | Cortical atrophy | ? | Normal | |||
| Dysmorphic facial features | — | — | ? | Deep set eyes, arched eyebrows, prominent nasal bridge | |||
| MECP2 mutation | G406X (inherited) | 241del TA (de novo) | A140V (inherited) | G428S (inherited) | |||
↵4-150 In one case, the necropsy of the brain showed diffuse cortical atrophy.