Table 1

Clinical and radiological findings

Patient/gender/current ageDevelopmental stagnation (months)SpeechMotor developmentHead circumferenceToneEpilepsyBrain MRI
B-II-1/F/20 years6–8Few wordsTurns over−2 SDLimb spasticity−Delayed myelination, thin CC
B-II-3/F/16 years8Few wordsSit without support−2 SDLimb spasticity, truncal hypotonia−Delayed myelination, thin CC
S-II-2/F/17 years3–4NoneNone−2 SDLimb spasticity, truncal hypotonia+Paucity of white matter, thin CC, cerebellar atrophy
S-II-5/M/12 years3–6NoneNone−3 SDSpasticity−Delayed myelination, thin CC
Z-II-1/F/13 years4NoneNone−3 SDSpasticity+Delayed myelination, paucity of white matter, thin CC
Z-II-2/F/11.5 years3NoneNone−3 SDLimb spasticity, truncal hypotonia−Paucity of white matter, thin CC
Z-II-5/M/1 year2NoneNoneNormal at birthHypotonia+Thin CC, large ventricles at 3 months
C-II-1/M/13 months2NoneNoneNormal at 13 monthsHypotonia−Thin CC, hypomyelination

  • CC, corpus callosum.