Table 4

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
Familiality2 cases (uncle and nephew)Sporadic4 brothersIsolated
Age at onsetInfancyNeonatal?Neonatal
Growth parameters???50th (3 y)
OFC (centile)75th-90th in adulthood10th-25th (6 y)Normal in adulthood50th (3 y)
Severe mental retardation++++
(2 y in 1 case, adulthood in 1 case)(3 y)
Neurological findingsAtaxic gaitAtaxic gaitResting tremorsRestless, uncoordinated movements, no spasticity, mild distal muscular atrophy
Spasticity, distal muscular atrophyLower limb muscular atrophySlowness of movements
Unilateral choreoathetosis in 1 case
Purposeful hand skills?+/−?+
Loss of skills+/−+
ElectroencephalogramBradyarrythmiaExcess of slow wave activity?Bradyarrythmia
Brain imagingNormal in 1 case4-150 Cortical atrophy?Normal
Dysmorphic facial features?Deep set eyes, arched eyebrows, prominent nasal bridge
MECP2 mutationG406X (inherited)241del TA (de novo)A140V (inherited)G428S (inherited)
  • 4-150 In one case, the necropsy of the brain showed diffuse cortical atrophy.