Table 1

Clinical findings in two males with the same MECP2 variation

Clinical dataImessaoudene et al17 (G428S)Our case (G428S)
Developmental delay++
Severe mental retardation++
Acquired microcephaly-+
Seizures-Frequent and resistant to treatment (presented first at age of 12 months)
Neurological findingsRestless, uncoordinated movementsPeriodic breathing, dorsal extension of the hands
Hypotonia, hyperlaxity, mild distal muscular atrophyNeurogenic muscular atrophy
Purposeful hand skills+Never acquired
Loss of skillsRetained-
ElectroencephalogramBradyarrhythmia (absence of paroxysmal anomalies)Generalised slow waves
Brain imaging (MRI)NormalMarked brain atrophy
SurvivalStill alive aged 3 yearsDied of respiratory failure at 18 months